Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

Michael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung, Cornelius F Boerkoel

Journal: American journal of medical genetics. Part A 2015;164A(7):1808-14

PMID: 24700502

Free Full Text on PubMed Central View on PubMed

Abstract

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 SMARCA4 (NM_001128849.1:c.2434C>T (NP_001122321.1:p.Leu812Phe)). This is the first reported mutation within motif Ia of the SMARCA4 SNF2 domain. In summary, SMARCA4-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.

Address: NIH Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and NHGRI, Bethesda, Maryland.

DOI: 10.1002/ajmg.a.36533

Link outs

Free resources

Full Text Sources:

Other Literature Sources:

https://scite.ai/reports/24700502

Miscellaneous:

https://assays.cancer.gov/CPTAC-570

Subscription / membership required

Full Text Sources:

MeSH Terms: Abnormalities, Multiple, Amino Acid Sequence, Amino Acid Substitution, Brain, Child, DNA Helicases, DNA Mutational Analysis, Face, Facies, Genetic Association Studies, Genetic Loci, Hand Deformities, Congenital, Humans, Intellectual Disability, Magnetic Resonance Imaging, Male, Micrognathism, Mutation, Neck, Nuclear Proteins, Phenotype, Transcription Factors