title: Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
abstract: 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.1090C>T (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.
authors.affiliation: Department of Paediatrics, the First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Huajuan
authors.initials: H
authors.lastname: Tong
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Yue
authors.forename: Liangzhong
authors.initials: L
authors.lastname: Sun
authors.forename: Huiqin
authors.initials: H
authors.lastname: Chen
authors.forename: Weiguang
authors.initials: W
authors.lastname: Wang
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002648:Child; D000072661:Ciliopathies; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*
chemical_list: D002148:Calmodulin-Binding Proteins; C498171:IQCB1 protein, human
keywords: Leber's congenital amaurosis; NPHP5; Senior-Løken syndrome; nephrocystin-5; nephronophthisis