A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
| Autor: | Behzat Özkan, Erhan Pariltay, Esra Ataman, Filiz Hazan, Korcan Demir, Erhan Ozbek, Ozdal Etlik |
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| Rok vydání: | 2016 |
| Předmět: |
Heart Defects
Congenital Male 0301 basic medicine Endocrinology Diabetes and Metabolism Cranial Fontanelles Limb Deformities Congenital Dwarfism Genitalia Male 030105 genetics & heredity Craniofacial Abnormalities 03 medical and health sciences Endocrinology medicine Guanine Nucleotide Exchange Factors Humans Abnormalities Multiple Aarskog–Scott syndrome Genetics Splice site mutation business.industry Infant Newborn Genetic disorder Shawl scrotum Genetic Diseases X-Linked Prognosis medicine.disease Actin cytoskeleton Robinow syndrome Alternative Splicing SHORT syndrome Face Urogenital Abnormalities Mutation Pediatrics Perinatology and Child Health Noonan syndrome medicine.symptom business Hand Deformities Congenital |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 29 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2015-0482 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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