Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1380-1383, 2020.
Article
de Zh
| WPRIM
| ID: wpr-879504
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Fratrie
/
Protéines membranaires
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Mutation
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Syndrome néphrotique
Limites du sujet:
Adult
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Female
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Humans
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Male
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Newborn
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article