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- Title
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior- Løken syndrome.
- Authors
Tong, Huajuan; Yue, Zhihui; Sun, Liangzhong; Chen, Huiqin; Wang, Weiguang; Wang, Haiyan
- 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.1090 C> 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.
- Subjects
RETINAL degeneration; AMINO acids; LEBER'S congenital amaurosis; KIDNEY diseases; CHRONIC kidney failure; BLINDNESS
- Publication
Nephrology, 2013, Vol 18, Issue 12, p838
- ISSN
1320-5358
- Publication type
Article
- DOI
10.1111/nep.12156