[Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation].
OBJECTIVE
To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery.


METHODS
DNA was extracted from amniotic cells in a pregnant woman close to 21 weeks' gestation, as well as from peripheral blood cells of the pregnant woman, her husband and their two sons. Screening for GJB2 and SLC26A4 gene mutations was firstly performed in the deafness proband (the first son of the couple), and then it was carried out in the fetus and the rest family members.


RESULTS
The first child of the family, i.e., the proband, was homozygous in the IVS7-2A > G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form.


CONCLUSIONS
It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.
Hu
Hao
H
National Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
Wu
Ling-qian
LQ
Liang
De-sheng
DS
Feng
Yong
Y
Cai
Fang
F
Xia
Kun
K
Pan
Qian
Q
Long
Zhi-gao
ZG
Dai
He-ping
HP
Xia
Jia-hui
JH
D000328:Adult; D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000076988:Sulfate Transporters
D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26