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Senior-Loken syndrome: a novel NPHP5 gene mutation in a family from Kuwait
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 203-207
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154338
Biblioteca responsável: EMRO
Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Here, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. Identification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family





Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Consanguinidade / Aconselhamento / Doenças Renais Císticas / Amaurose Congênita de Leber / Mutação Tipo de estudo: Relato de Casos Aspecto clínico: Predição Limite: Feminino / Humanos / Masculino Idioma: Inglês Revista: Egypt. J. Med. Hum. Genet. Ano de publicação: 2014