Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:37

Enthalten in:

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 37(2020), 9 vom: 10. Sept., Seite 958-961

Sprache:

Chinesisch

Beteiligte Personen:

Zhao, Xiang [VerfasserIn]
Yang, Dan [VerfasserIn]
Jia, Yumin [VerfasserIn]
Shou, Yanling [VerfasserIn]
Wang, Liming [VerfasserIn]
Wang, Xiangzhi [VerfasserIn]
Fu, Jiena [VerfasserIn]
Guo, Huafeng [VerfasserIn]
Zhao, Jianping [VerfasserIn]
Yin, Hao [VerfasserIn]
Zhang, Xueyan [VerfasserIn]
Zhu, Xiwei [VerfasserIn]
Gao, Lijuan [VerfasserIn]
Ma, Chaojie [VerfasserIn]
Xie, Zedan [VerfasserIn]
Shi, Man [VerfasserIn]

Links:

Volltext

Themen:

127120-53-0
136362-16-8
Connexin 26
Connexins
GJB2 protein, human
GJB3 protein, human
Journal Article
SLC26A4 protein, human
Sulfate Transporters

Anmerkungen:

Date Completed 20.11.2020

Date Revised 04.12.2021

published: Print

Citation Status MEDLINE

doi:

10.3760/cma.j.cn511374.20191225.00661

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM313942382