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
en Zh
| WPRIM
| ID: wpr-879504
Biblioteca 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.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Hermanos
/
Proteínas de la Membrana
/
Mutación
/
Síndrome Nefrótico
Límite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Article