Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype

Autor:	Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Charcot-Marie-Tooth disease type 2B Phenotype variability Digeneic effect RAB7A/LRSAM1 gene interactions Neurology. Diseases of the nervous system RC346-429
Zdroj:	Case Reports in Neurology, Vol 8, Iss 2, Pp 120-126 (2016)
Druh dokumentu:	article
ISSN:	1662-680X 00044687
DOI:	10.1159/000446872
Popis:	Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) gene cause CMT2P. We describe the genotype/phenotype analysis of a family in which a previously described mutation in the RAB7A gene and a novel mutation in the LRSAM1 gene were identified. In this family, none of the individuals had ulceromutilating features, and there was a marked variability in the age of onset. We discuss the possible etiology of the observed phenotypic variability including the role of gender and possible RAB7A/LRSAM1 gene interactions.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/59033e0e72ba49b0bfac0c1bfa98b9c0 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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