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

Erhan Parıltayhttp://orcid.org/0000-0002-7877-6103 1 , Filiz Hazan 2 , Esra Ataman 3 , Korcan Demir 4 , Özdal Etlik 5 , Erhan Özbek 6 , and Behzat Özkan 7
  • 1 Ege University Faculty of Medicine Department of Medical Genetics, Bornova/Izmir 35100, Turkey, Phone: +90 532 3224442, E-mail: erhan.pariltay@ege.edu.tr
  • 2 Dr.Behcet Uz Children Disease and Surgery Training and Research Hospital, Department of Medical Genetics, Izmir, Turkey
  • 3 Dokuz Eylul University Medical Faculty, Department of Medical Genetics, Izmir, Turkey
  • 4 Dokuz Eylul University Medical Faculty, Department of Pediatric Endocrinology, Izmir, Turkey
  • 5 Burc Molecular Diagnostic Laboratories, Department of Genetics, Izmir, Turkey
  • 6 Dr.Behcet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Izmir, Turkey
  • 7 Katip Çelebi University Atatürk Research and Training Hospital, Department of Pediatric Endocrinology, Izmir, Turkey
Erhan ParıltayORCID iD: http://orcid.org/0000-0002-7877-6103, Filiz Hazan, Esra Ataman, Korcan Demir, Özdal Etlik, Erhan Özbek and Behzat Özkan

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.

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