Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 958-961, 2020.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-827766
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou.@*METHODS@#Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray.@*RESULTS@#In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time.@*CONCLUSION@#The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo