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Matrix Biol. Prader-Willi syndrome - Symptoms and causes - Mayo Clinic MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3 UTR and coding-sequence binding sites. They also may have a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. 92, 166171 (2017). Van Herwegen, P. Ortiz-Romero, who co-reviewed with V. Campuzano, and the other, anonymous, reviewer(s) for their contribution to the peer review of this work. Expert Opin. Oetjens, M. T., Kelly, M. A., Sturm, A. C., Martin, C. L. & Ledbetter, D. H. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. J. Hum. Res. . And at social gatherings, he would compulsively compliment everyone on their appearance. Genet. Neuropsychol. CDC National Center on Birth Defects and Developmental Disabilities. Scherer, S. W. & Osborne, L. R. in Genomic disorders. developed the outline for the manuscript, engaged the contributors and synthesized the final manuscript. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. 154C, 229248 (2010). significant changes during recent human evolution. Res. Clin. Mol. It is a condition in which the TSH levels are a little high but the T4 level is normal. Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype. Dev. Williams syndrome is a developmental disorder that affects many parts of the body. Res. 78, 533542 (2006). Pediatr. Vasc. Res. & Van Herwegen, J. Ravindran, S., Nalavadi, V. C. & Muddashetty, R. S. BDNF induced translation of Limk1 in developing neurons regulates dendrite growth by fine-tuning cofilin1 activity. 60, 10311042 (2016). Heterogeneous cellular contributions to elastic laminae formation in arterial wall development. 48, 30373050 (2018). If so, you would expect to see signs that these genes have changed in recent evolutionary history. A 152A, 653656 (2010). Williams syndrome, which affects 30,000 people in the U.S., is often called the opposite of autism. Rev. & Campbell, E. J. Eur. Am. According to one prominent hypothesis, endorsed by researchers such as Richard Wrangham of Harvard University, humans self-domesticated by eliminating the most aggressive members from the gene pooleither through capital punishment or through sexual selection, in which people started to opt for less violent individuals to be the parents of their children. https://williams-syndrome.org.uk/wp-content/uploads/2018/07/williams_syndrome_guidelines_pdf.pdf (The Williams Syndrome Foundation UK, London, 2017). Genet. 102, 17831787 (1998). Tassabehji, M. et al. Diabetes Obes. J. Clin. Dial. Eur. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome. That could reduce aggression and promote cooperation by reducing the adrenal glands, while also resulting in the more delicate facial features that are common to humans and domesticated animals. Mervis, C. B. American Heart Association. Genet. Biol. Thromb. This theory tallies with various measures of social behavior, which show that people with Williams syndrome tend to be less sensitive to others negative emotions and signs of hostility, so that literally everyone can seem approachable. Inversion of the Williams syndrome region is a common polymorphism Nicita, F. et al. 48, 19821994 (2018). Stenosis coexists with compromised alpha1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome. & Mecham, R. P. Elastic fiber ultrastructure and assembly. Genet. USA 99, 1280712812 (2002). Physiol. Cardiovasc. Sharma, P. et al. 50, 151160 (2006). 315, 137141 (1994). Res. Mol. 24, 851861 (2015). PLoS One 9, e104088 (2014). Physical Activity for People with Disability https://www.cdc.gov/ncbddd/disabilityandhealth/features/physical-activity-for-all.html (2020). Neurosci. Fisher, M. H., Josol, C. K. & Shivers, C. M. An examination of social skills, friendship quality, and loneliness for adults with Williams syndrome. Tissue Eng. Del Pasqua, A. et al. A 131, 255264 (2004). Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. J. Hum. Mol. provided clinical photos and M.P. Williams Syndrome: Symptoms, Diagnosis, and Treatments - Healthline Durdiakova, J., Warrier, V., Banerjee-Basu, S., Baron-Cohen, S. & Chakrabarti, B. STX1A and Asperger syndrome: a replication study. Description of common musculoskeletal findings in Williams syndrome and implications for therapies. Dev. Rep. 10, 889 (2020). Hum. Thurman, A. J. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Human blood vessel organoids as a model of diabetic vasculopathy. Med. Regul. Med. 6, 2631 (1997). J. Med. 364, 3645 (2012). Genet. Syndromol. 1 WS occurs in 1 in 10 000 live births 2 as a result of the de novo deletion of 1.55 to 1.83 Mb on chromosome 7q11. People with Williams syndrome lack 26 to 28 neighboring genes on the seventh human chromosome. & Feng, G. Neurobiology of social behavior abnormalities in autism and Williams syndrome. Med. Thromb. Biol. Transcription factor 2I regulates neuronal development via TRPC3 in 7q11.23 disorder models. In this study, individuals with WBS from diverse populations were assessed clinically and by facial . Genet. Genet. A 176, 11281136 (2018). Nat. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with Williams-Beuren syndrome. The Interplay Between Anxiety and Social Functioning in Williams Syndrome Kennedy, J. C., Kaye, D. L. & LS, S. Psychiatric diagnoses in patients with Williams syndrome and their families. Genet. Ultimately, though, such characteristics probably arise through many different mechanisms. conducted the family experience interview. Life Sci. Writ. Open Access J. Hum. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. And thats exactly what Cedric Boeckx at the University of Barcelona has recently been trying to test. The experiments are a collaboration with Giuseppe Testa and his team at the University of Milan and the European Institute of Oncology. Am. Campuzano, V. et al. 46, 514523 (2005). & Reutens, D. C. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. 129, 324338 (2012). 66, 94106 (2017). Invest. J. Autism Dev. Dev. Genet. Plissart, L. & Fryns, J. P. Early development (5 to 48 months) in Williams syndrome. Stromme, P., Bjornstad, P. G. & Ramstad, K. Prevalence estimation of Williams syndrome. The collagen and elastin content of the arterial wall in the dog. Bayarsaihan, D. What role does TFII-I have to play in epigenetic modulation during embryogenesis? Children with this syndrome could have problems with their heart, blood vessels, kidneys, and. Elison, S., Stinton, C. & Howlin, P. Health and social outcomes in adults with Williams syndrome: findings from cross-sectional and longitudinal cohorts. Front. This paper demonstrates the roles of the deletion of centromeric and telomeric portions of the WSCR in the WS neurocognitive profile. C. Semin. Echocardiographic findings in patients with Williams-Beuren syndrome. Too skinny and problems gaining weight. Schubert, C. The genomic basis of the Williams-Beuren syndrome. 43, 266273 (2006). Muscle Res. Parks, W. C. Posttranscriptional regulation of lung elastin production. Tussie-Luna, M. I., Bayarsaihan, D., Seto, E., Ruddle, F. H. & Roy, A. L. Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta. This is the largest study (n=48) that discusses risks associated with anaesthesia in individuals with WS. Hum. & Antebi, V. Word reading and reading-related skills in Hebrew-speaking adolescents with Williams syndrome. Genet. Symptoms that appear in infancy may include: A weak cry. 117, 383388 (2005). 74, 362371 (1977). Rev. Autism Res. 139, 849853 (2001). https://doi.org/10.1007/s11145-021-10163-4 (2021). Kozel, B. J. Med. But he just doesnt go there, you know? Disabil. 2, 909916 (2015). The authors thank the anonymous individual with WS and her parents who provided the family experience interview as well as those who provided facial photographs for Fig. This paper dissects the role of endothelial and smooth muscle cells in the elastin-insufficiency phenotype and is the first mouse model to show neointima formation in an elastin mutant. We perfor Mol. Scientists have had a tough time explaining all the diverse symptoms and characteristics associated with Williams syndrome. Article Gene 274, 113 (2001). Development 130, 411423 (2003). Burch, T. M., McGowan, F. X. Jr., Kussman, B. D., Powell, A. J. Hum. Educ. A 146A, 17971806 (2008). 11, 414 (2020). Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. PubMed Central Urol. Comparing parental stress of children with neurodevelopmental disorders: the case of Williams syndrome, Down syndrome and autism spectrum disorders. Common Endocrine Issues in Williams Syndrome (WS): Hypothyroid Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients. Fidler, D. J., Hodapp, R. M. & Dykens, E. M. Stress in families of young children with Down syndrome, Williams syndrome, and Smith-Magenis syndrome. 146, 181186 (2015). Parrish, P. C. R. et al. Mol. Zhang, M. & Parks, W. C. Posttranscriptional regulation of lung elastin expression involves binding of a developmentally regulated cytosolic protein to an open-reading frame cis-element in the messenger RNA. Wimmer, R. A. et al. Nature 536, 338343 (2016). The social phenotype of Williams syndrome. Am. A. Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: whats the mystery? Common problems included difficulty integrating eye contact to show an object or to request an object that was out of reach . Researchers are turning to a rare genetic condition to explore the mysterious origins of human cooperation. Am. PLoS Genet. Wu, F. Y. et al. A. et al. 5 Signs Williams Syndrome is Present. J. Ment. Reduced insulin secretion correlates with decreased expression of exocytotic genes in pancreatic islets from patients with type 2 diabetes. Genet. Invest. Adv. Babies can be born with serious cardiovascular problems, and heart and artery problems are common. Dev. Williams syndrome is a rare condition that occurs in an estimated 1 in every 10,000 births in the United States. J. Pediatr. Clin. Genet. Osborne, L. R. et al. & Pitts, C. H. Children with Williams syndrome: developmental trajectories for intellectual abilities, vocabulary abilities, and adaptive behavior. A human neurodevelopmental model for Williams syndrome. Disord. 6, 483492 (2017). J. Clin. J. Med. 73, 131151 (2003). But the drug also reduced hyper-sociality. This content does not have an English version. & DiNardo, J. The team identified which genes are regulated by BAZ1B, and which might therefore be involved in neural-crest migration. Res. MEDICAL | Williams Syndrome Association Drummond, G. R., Selemidis, S., Griendling, K. K. & Sobey, C. G. Combating oxidative stress in vascular disease: NADPH oxidases as therapeutic targets. Scheiber, D. et al. National Organization for Rare Disorders. Integrin beta3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. Although these differences are widely documented, the evolutionary processes that led to humans friendlier and more collaborative disposition have remained a mystery. Disord. 19, 647655 (2016). Young. J. Disabil. Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. 30, 6970 (2021). 146, 541551 (1957). Health Res. Gene Expr. Dev. 6, 5 (2020). This article presents multisystem assessments on adults with WS, emphasizing the major medical conditions in adults with WS, and provides recommendations for monitoring guidelines. Sci. Nature 565, 505510 (2019). Though there are many signs and symptoms, the five signs that primarily lead a doctor to suspect this ailment are these: Facial abnormalities. Her sister said it's hard for Kiley to make friends - which is why it was all the more special that 2 friends she met at camp last year drove 3 hours to surprise her on her 15th birthday. Genet. Liu, C., Niu, K. & Xiao, Q. Powell, S. K., Gregory, J., Akbarian, S. & Brennand, K. J. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. 4, 16771679 (1995). Am. Child. Nature Reviews Disease Primers thanks A. Selicorni, D. Gothelf, J. B Neuropsychiatr. Mol. Child. McGoon, D. C., Mankin, H. T., Vlad, P. & Kirklin, J. W. The surgical treatment of supravalvular aortic stenosis. 146, 187194 (2015). Li, D. Y. et al. Neuropsychopharmacol. Leyfer, O. T., Woodruff-Borden, J., Klein-Tasman, B. P., Fricke, J. S. & Mervis, C. B. Congenital genitourinary abnormalities in children with Williams-Beuren syndrome. Shapiro, S. D., Endicott, S. K., Province, M. A., Pierce, J. J. Autism Dev. 86, 3443 (1999). Exactly why the myelin loss could influence social behavior is still a mystery, but one of the scientists, Boaz Barak, believes that it might disrupt communication between the amygdala, which processes emotions such as fear, and the frontal cortex, which is important for decision making. Res. 154C, 299306 (2010). J. Clin. Integr. Epigenomics 5, 911 (2013). WS occurs equally in males and females and in all cultures . Khonsari, S.) 276280 (Aspen Publishers, 1988). 145C, 280290 (2007). Williams syndrome is a developmental disorder that is characterized by cardiovascular problems, intellectual or learning disabilities, distinctive facial features, and a sociable personality. Sammour, Z. M. et al. Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. Disord. 10, 4897 (2019). A critical role for elastin signaling in vascular morphogenesis and disease. Antonell, A., Vilardell, M. & Perez Jurado, L. A. Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits. M.P. Genet. 141B, 615622 (2006). Dis. One of the other genes implicated in Williams syndrome, GTF2I, which may also alter neural-crest cell migration and hyper-sociality, has similarly experienced significant changes during recent human evolution, and appears to be altered in other domesticated animals. Mervis, C. B., Becerra, A. M., Pitts, C. H. & Marchman, V. A. in Symposium on Research in Child Language Disorders (Madison, WI, 2019). Brain 9, 76 (2016). J. Med. Kruszka, P. et al. 71, 3044 (2002). Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. Williams Syndrome, Williams Beuren Syndrome: Causes, Symptoms & Treatment & Bellugi, U. Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. Genet. Location & Contact Education & Experience Overview Dr. Colleen A. Morris is a clinical geneticist in Las Vegas, Nevada. Hypertension 62, 794801 (2013). Curr. Genet. Hum. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. Mol. An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. 51, 873882 (1966). Pitts, C. H., Klein-Tasman, B. P., Osborne, J. W. & Mervis, C. B. Predictors of specific phobia in children with Williams syndrome. J. Med. 58, 572582 (2014). Nephrol. 97, 216227 (2015). Res. The authors declare no conflicts of interest. 29, 578589 (2016). J. Intellect. Fenson, L. et al. Dai, L. et al. Mech. J. Med. Prader-Willi Syndrome: Symptoms & Causes - Cleveland Clinic So far, its only the first glimmer of evidence that self-domestication altered behavior and appearance through changes to our neural-crest cells. Mol. Congenit. J. Disabil. Commun. Opin. Researchers at MIT have recently shown that, in addition to the motor problems, the deletion of GTF2I produced more social behavior in laboratory mice. Risk of sudden death in the Williams-Beuren syndrome. Sadler, L. S. et al. 16, 414422 (2021). A friendly condition. Psychol. Sakurai, T. et al. This paper presents the largest series of facial photographs of individuals with WS from multiple regions throughout the world; this is crucial for increasing international awareness of WS. Li, B. Copes, L. E., Pober, B. R. & Terilli, C. A. CAS Nat. Med. MacArthur-Bates Communicative Development Inventories: Users guide and technical manual 2nd edn, (Brookes, 2007). This paper links elastin insufficiency to changes in smooth muscle cell proliferation. The genomic basis of disease. Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren syndrome: a randomized controlled trial. Roy, A. L. Biochemistry and biology of the inducible multifunctional transcription factor TFII-I. Intellect. 64, 14751478 (1999). 6, 249261 (2015). Further investigations of the condition might provide much more evidence for the self-domestication hypothesis and its consequences for human nature. Intellect. Nagy, N. & Goldstein, A. M. Enteric nervous system development: a crest cells journey from neural tube to colon. Abu-Sultaneh, S., Gondim, M. J., Alexy, R. D. & Mastropietro, C. W. Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature. Lethargy (tiredness). was funded by the Fritz Thyssen Stiftung and the Israel Science Foundation (Grant No.2305/20). DSM-4: Diagnostic and Statistical Manual of Mental Disorders 4th ed. J. Ment. 5 Signs A Child Has Williams Syndrome | 6 Minute Read - Power of Positivity Child. Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness. Williams Syndrome: Causes, Symptoms, and Diagnosis - WebMD Cardiovasc. Google Scholar. Morris, C. A. in GeneReviews (University of Washington, 1999). Wien. Bayley, N. Manual for the Bayley Scales of Infant Development 2nd edn, (Psychological Corp., 1993). Coquand-Gandit, M. et al. Child. Williams Syndrome https://rarediseases.org/rare-diseases/williams-syndrome/ (2006). Fu, T. J., Lincoln, A. J., Bellugi, U. Collins, R. T. II Cardiovascular disease in Williams syndrome. A novel recurrent breakpoint responsible for rearrangements in the Williams-Beuren region. This tells how much hormone the body is making. Commun. Williams syndrome - UpToDate Biol. Dev. Brain 142, 39633974 (2019). 64, 789794 (2019). 7q11.23 Duplication syndrome: physical characteristics and natural history. By Simon Worrall Published July 15, 2017 11 min read A child that can't stop hugging. Genet. The authors affirm that human research participants provided informed consent for: publication of the photographs in Fig. & Campuzano, V. Intracisternal Gtf2i gene therapy ameliorates deficits in cognition and synaptic plasticity of a mouse model of Williams-Beuren syndrome. Williams syndrome (WS) is a rare genetic disorder. An academic clinicians road map to hypertension genomics: recent advances and future directions MMXX. Biaxial stretch improves elastic fiber maturation, collagen arrangement, and mechanical properties in engineered arteries. Williams syndrome occurs spontaneously, not as the result of an inherited characteristic from either parent (unless the parent has Williams syndrome). Variability in early communicative development. J. Hum. Kimura, R. et al. Such results are of great interest in medicine. Is it Williams syndrome? Genet. 19, 170 (2019). & Johnson, J. Williams syndrome: features in late childhood and adolescence. was funded by Williams Syndrome Australia Limited. The loss of another gene, BAZ1B, impairs the migration and survival of what are known as neural-crest cells across the body. Osborne, L. R. & Mervis, C. B. BJOG 111, 511512 (2004). 10, 804809 (2014). https://doi.org/10.1038/s41572-021-00276-z, DOI: https://doi.org/10.1038/s41572-021-00276-z. Dev. Cardiovascular Disease in Williams Syndrome | Circulation Pham, P. P., Moller, J. H., Hills, C., Larson, V. & Pyles, L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. 47, 468470 (1993). Nat. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. et al. Genet. Biol. J. Med. Soc. 46, 34243433 (2016). Bayes, M., Magano, L. F., Rivera, N., Flores, R. & Perez Jurado, L. A. Mutational mechanisms of Williams-Beuren syndrome deletions. Plaja, A. et al. 59, 1173 (1994). Children with WS usually come to the attention of pediatricians during infancy or early childhood. Karmiloff-Smith, A. et al. Diagnosis Neuropsychopharmacology 45, 16271636 (2020). Res. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. 286, 4492644936 (2011). Rastelli, G. C., McGoon, D. C., Ongley, P. A., Mankin, H. T. & Kirklin, J. W. Surgical treatment of supravalvular aortic stenosis. 107, 18481854 (2008). What is Williams syndrome? | Williams Syndrome Association Klein-Tasman, B. P. & Albano, A. M. Intensive, short-term cognitive-behavioral treatment of OCD-like behavior with a young adult with Williams syndrome. Frequently Asked Questions about Williams Syndrome J. Med. Physiol. Mol. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Genet. Metcalfe, K., Simeonov, E., Beckett, W., Donnai, D. & Tassabehji, M. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. J. Intellect. Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. Chem. Sci. J. Thorac. Am. 25, 12071215 (2015). Biophys. Antonell, A. et al. Urban, Z. et al. Sci. A. et al. People with Williams syndrome lack 26 to 28 neighboring genes on the seventh human chromosome. J. Med. Klin. Psychiat. Dev. J. Hum. Mol. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. 50, 36493660 (2020). J. Appl. Disabil. The current research aimed to explore the profiles of social behaviour and anxiety . Correspondence to Surg. Anaesth. was supported by the Williams Syndrome Association and the Williams Syndrome Charitable Foundation, USA. J. Respir. This paper describes the impact of elastin insufficiency in humans and mice, cementing its role in the vasculopathy of WS. Disabil. Morigny, P. et al. Other apes, such as chimps, tend to live together in much smaller numbers than humansand although they can cooperate on activities such as hunts, in-group violence is still far more common than the aggression we see in human societies. Expert Opin. 51, 169178 (2020). Proc. Long-term surgical prognosis of primary supravalvular aortic stenosis repair. A. & Fisher, M. H. The Williams syndrome social phenotypes: disentangling the contributions of social interest and social difficulties. Pulmonary function in Williams-Beuren syndrome: spirometric data of 22 Italian patients. Kinnear, C. et al. Porter, M. A. Williams syndrome, also known as Williams-Beuren syndrome, occurs when people are missing of a chunk of DNA containing about 27 genes. 84, 169176 (2020). Genet. Neurol. Ferrari, M. & Stagi, S. Oxidative stress in Down and Williams-Beuren syndromes: an overview. Symptoms that affect your child's body may be present at birth but become more apparent as they grow. Hum. J. Pediatr. This is a preview of subscription content, access via your institution. Mol. 20, 293306 (2020). 66, 11781197 (2009). Barnett, C. et al. J. Pediatr. Circulation 127, 21252134 (2013). Read. Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness. 154C, 209219 (2010). Brown, M. L., Nasr, V. G., Toohey, R. & DiNardo, J. Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome. CAS J. Med. Fusco, C. et al. Behavioural profile and maternal stress in Greek young children with Williams syndrome. Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome. Res. Genet. Congenit. How common is Williams syndrome? J. Intellect. This content does not have an Arabic version. Science 314, 122125 (2006). Am. Genet. Elastin is an essential determinant of arterial morphogenesis. Arch. 40, 136140 (2003). Disabil. Genet. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Deficient circumferential growth is the primary determinant of aortic obstruction attributable to partial elastin deficiency. J. Intellect. Adamo, A. et al. Andersson, S. A. et al. By comparing the modern human genomes with those of our closest relatives, the Neanderthals and the Denisovans, they found signs that BAZ1B and its targets had indeed undergone significant selection in the recent history of Homo sapiens. Masataka, N. Why early developmental milestones are delayed in children with Williams syndrome: late onset of hand banging as a possible rate-limiting constraint on the emergence of canonical babbling. Natl Acad. Hum. 35, 176186 (2021). Richards, C., Jones, C., Groves, L., Moss, J. Mounting evidence also ascribes phenotypic consequences to the deletion of BAZ1B, LIMK1, STX1A and MLXIPL, but more work is needed to understand the mechanism by which these deletions contribute to clinical outcomes. Nature Reviews Disease Primers Genet. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Williams syndrome - About the Disease - Genetic and Rare Diseases Williams syndrome Information | Mount Sinai - New York Commun. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. Disabil. J. Neurodev. These issues can range from mild to severe when evident but no issue affects everyone. J. Med. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Clinical diagnostic interview of psychopathology and behaviour, as opposed to just a symptom checklist. Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity. N. Engl. J. Thorac. Long-term cardiovascular outcome of Williams syndrome. Neuropsychol. Res. volume7, Articlenumber:42 (2021) Health Res. Rev. Biomed. Proc. Biophys. Natl Acad. 112, 14191428 (2003). Anesth. The developmental disorder Williams syndrome (WS) has been associated with an atypical social profile of hyper-sociability and heightened social sensitivity across the developmental spectrum. 8, e00895 (2018). Am. 36, 345352 (1990). Mol. 7, 931937 (2013).