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

J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alternative Splicing / genetics*
  • Cranial Fontanelles / pathology*
  • Craniofacial Abnormalities / complications
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Dwarfism / complications
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Face / abnormalities*
  • Face / pathology
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genitalia, Male / abnormalities*
  • Genitalia, Male / pathology
  • Guanine Nucleotide Exchange Factors / genetics*
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / pathology
  • Male
  • Mutation / genetics*
  • Prognosis
  • Urogenital Abnormalities / complications
  • Urogenital Abnormalities / genetics*
  • Urogenital Abnormalities / pathology

Substances

  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome
  • Robinow Syndrome