Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 765-768, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776811
ABSTRACT
OBJECTIVE@#To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.@*METHODS@#Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing.@*RESULTS@#The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic.@*CONCLUSION@#PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Análisis Mutacional de ADN
/
Receptores de Superficie Celular
/
Diagnóstico
/
Asesoramiento Genético
/
Genética
/
Enfermedades Renales Poliquísticas
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS