Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene].

Zhufeng Liu, Wenhong Wang, Xuan Zhang, Shuying Fan, Yan Liu, Yan Liu

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Dec 10

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To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF). Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents. 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. 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.

Citation

Zhufeng Liu, Wenhong Wang, Xuan Zhang, Shuying Fan, Yan Liu, Yan Liu. Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2020 Dec 10;37(12):1380-1383