A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
Articles > Article · 2016
Authors: Erhan PARILTAY, Filiz HAZAN, Esra Ataman, Korcan Demir, Ozdal ETLİK, Erhan OZBEK, Behzat OZKAN
Journal of Pediatric Endocrinology and Metabolism, Journal Indexed in SCI Expanded, International, WoS, 2016, vol 29, pp 1111-4
Summary
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T>A splice site mutation on the FGD1 gene.