A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel

PARILTAY E., Hazan F., Ataman E., DEMİR K., Etlik O., Ozbek E., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.9, pp.1111-1114, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 9
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2015-0482
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1111-1114
  • Keywords: Aarskog-Scott syndrome, enlarged fontanel, FGD1, novel mutation, EXPRESSION
  • Dokuz Eylül University Affiliated: Yes


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.