Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene.
10.3760/cma.j.cn511374-20200116-00034
- Author:
Zhufeng LIU
1
;
Wenhong WANG
;
Xuan ZHANG
;
Shuying FAN
;
Yan LIU
;
Yan LIU
Author Information
1. Department of Nephrology, Tianjin Children's Hospital, Tianjin 300400, China. docwwh@163.com.
- Publication Type:Journal Article
- MeSH:
Adult;
Female;
Humans;
Infant, Newborn;
Male;
Membrane Proteins/genetics*;
Mutation;
Nephrotic Syndrome/genetics*;
Siblings
- From:
Chinese Journal of Medical Genetics
2020;37(12):1380-1383
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF).
METHODS:Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents.
RESULTS:The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe edema, which were suggestive of CNF. Genetic testing identified that the sib-pair has both carried two heterozygous variants of NPHS1 gene, namely c.2605G>C (p.P869>A) and c.-61G>A, for which their father and mother were heterozygous carriers.
CONCLUSION:The c.2605G>C (p.869P>A) and c.-61G>A variants of the NHPS1 gene probably underlay the CNF in both sibs. The c.2605G>C(p.869P>A) was unreported previously.
