title: A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
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.
authors.forename: Erhan
authors.identifier: http://orcid.org/0000-0002-7877-6103
authors.initials: E
authors.lastname: Parıltay
authors.forename: Filiz
authors.initials: F
authors.lastname: Hazan
authors.forename: Esra
authors.initials: E
authors.lastname: Ataman
authors.forename: Korcan
authors.initials: K
authors.lastname: Demir
authors.forename: Özdal
authors.initials: Ö
authors.lastname: Etlik
authors.forename: Erhan
authors.initials: E
authors.lastname: Özbek
authors.forename: Behzat
authors.initials: B
authors.lastname: Özkan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing / Q000235:genetics*; D055762:Cranial Fontanelles / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004392:Dwarfism / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005837:Genitalia, Male / Q000002:abnormalities* / Q000473:pathology; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors