Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome

Autor:	Huajuan, Tong, Zhihui, Yue, Liangzhong, Sun, Huiqin, Chen, Weiguang, Wang, Haiyan, Wang
Rok vydání:	2013
Předmět:	Male Adolescent Optic Atrophies Hereditary Leber Congenital Amaurosis Mutation Humans Calmodulin-Binding Proteins Female Kidney Diseases Cystic Child Ciliopathies
Zdroj:	Nephrology (Carlton, Vic.). 18(12)
ISSN:	1440-1797
Popis:	Senior-Løken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. NPHP5 mutations are known to cause classical Senior-Løken syndrome. Here, we report two sisters (II-4, II-5) from a Chinese Han ethnic family who presented with classical Senior-Løken syndrome. Both affected sisters exhibited Leber's congenital amaurosis and juvenile nephronophthisis that progressed to end-stage renal disease by the age of 16 years and 9 months in patient II-4 and 12 years and 9 months in patient II-5. Sequence analysis showed a homozygous truncated mutation in NPHP5, c.1090CT (p.R364X), in the patient II-4. This mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function. Both parents carried a single heterozygous mutation in the same position, and no homozygous deletion of NPHP1 was found in this pedigree.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::3fcfe81750ac300ba050db4a554b56fc https://pubmed.ncbi.nlm.nih.gov/24674142 Zobrazit plný text záznamu Plný text