Open AccessCoffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous <b><i>SMARCA4</i></b> Deletion Detected by High-Resolution aCGH
Author(s) -
Anastasios Mitrakos,
Leandros Lazaros,
Agni Pantou,
Ariadni Mavrou,
Emmanuel Kanavakis,
Maria Tzetis
Publication year - 2020
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000508563
Subject(s) - haploinsufficiency , smarca4 , medicine , sensorineural hearing loss , monosomy , intellectual disability , short stature , genetics , hearing loss , phenotype , chromosome , gene , biology , audiology , epigenetics , karyotype , chromatin remodeling
Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the SMARCA4 gene. We conclude that haploinsufficiency of SMARCA4 may be a valid pathophysiological mechanism leading to milder Coffin-Siris syndrome phenotypes.