[Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1143-1145, 2020 Oct 10.
Article
en Zh
| MEDLINE
| ID: mdl-32924121
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a fetus with autosomal recessive polycystic kidney disease (ARPKD).METHODS:
Fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple. Following extraction of genomic DNA, genetic testing was carried out.RESULTS:
The fetus was found to carry compound heterozygous variants of the PKHD1 gene, namely c.5336A>T (p.N1779I) and c.9455delA (p.N3152Tfs*10), which were respectively inherited from the husband and wife.CONCLUSION:
The c.5336A>T and c.9455delA variants of the PKHD1 gene probably account for the ARPKD in the fetus. Above results have enabled genetic counseling and prenatal diagnosis for the couple.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Riñón Poliquístico Autosómico Recesivo
/
Receptores de Superficie Celular
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China