Τίτλος:
Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2020 S. Karger AG, Basel.
Συγγραφείς:
Mitrakos, A.
Lazaros, L.
Pantou, A.
Mavrou, A.
Kanavakis, E.
Tzetis, M.
Περιοδικό:
Molecular Syndromology
Λέξεις-κλειδιά:
BRG1 protein; valproic acid, adult; Article; audiography; autosomal dominant disorder; birth weight; body height; body weight; body weight loss; case report; chromosome 19; chromosome analysis; clinical article; clinical examination; coffin siris syndrome 4; cognition; comparative genomic hybridization; congenital malformation; developmental delay; dyscalculia; dysgraphia; failure to thrive; febrile convulsion; feeding difficulty; female; gene deletion; genetic screening; haploinsufficiency; Hashimoto disease; heterozygote; human; hypothyroidism; intellectual impairment; microarray analysis; microcephaly; myopia; neuroimaging; nuclear magnetic resonance imaging; pathophysiology; perception deafness; priority journal; processing speed; scalp hair; scoliosis; speech delay; sprain; Wechsler adult intelligence scale; working memory
