1.Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome.
Xiang ZHAO ; Dan YANG ; Yumin JIA ; Yanling SHOU ; Liming WANG ; Xiangzhi WANG ; Jiena FU ; Huafeng GUO ; Jianping ZHAO ; Hao YIN ; Xueyan ZHANG ; Xiwei ZHU ; Lijuan GAO ; Chaojie MA ; Zedan XIE ; Man SHI
Chinese Journal of Medical Genetics 2020;37(9):958-961
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.
Result Analysis
Print
Save
E-mail