Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation. Issue 7 (3rd April 2014)

• Record Type: Journal Article
• Authors: Tzeng, Michael; du Souich, Christèle; Cheung, Helen Wing‐Hong; Boerkoel, Cornelius F.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 7(2014.)
• Page Start: 1808
• Page End: 1814
• Publication Date: 2014-04-03
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36533
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36533-sec-0001" sec-type="section"> <p>Coffin‐Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin‐remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The propositus had a novel de novo heterozygous missense mutation in exon 17 of <italic>SMARCA4</italic> (NM_001128849.1:c.2434C&gt;T (NP_001122321.1:p.Leu812Phe)). This is the first reported mutation within motif Ia of the SMARCA4 SNF2 domain. In summary, <italic>SMARCA4</italic>‐associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype–phenotype correlation. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>