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  • Title: [Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene].
    Author: Liu Z, Wang W, Zhang X, Fan S, Liu Y, Liu Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec 10; 37(12):1380-1383. PubMed ID: 33306827.
    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.
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