title: GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.
abstract: Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss. However, in most previous studies it was not possible to distinguish between congenital (present at birth) and non-congenital prelingual hearing loss. In the present study, the frequency of GJB2 alleles in 20 newborns with bilateral severe-to-profound non-syndromic hearing impairment (NSHI) who were found at birth through newborn hearing screening and clinical examination is reported. PCR was used to amplify the coding region of GJB2 gene followed by sequencing analyses. Fifty volunteers with normal hearing were included as controls. Results showed that three cases were 235delC/235delC homozygotes; one was 235delC/605ins46 compound heterozygotes, 605ins46 mutation was a novel mutation reported in the Chinese population; another was 235delC/299-300delAT compound heterozygotes. 25% (5/20) of the deafness in newborns studied was caused by GJB2 gene mutations. The frequency of 235delC allele carrier in patients and in control group was 22.5% and 1%, respectively. One case was identified as being a 235delC heterozygote without other mutations detected. Besides, multiple polymorphisms such as V27I, V37I, E114G, T123N were also detected. In conclusion, GJB2 analysis is an important test that identifies a major cause of newborns with bilateral severe-to-profound NSHI screened by universal newborn hearing screening in Northern China. The most common pathologic mutation of GJB2 in studied cases was 235delC. Molecular analysis and genetic counseling will be extremely important for congenital deafness present at birth.
authors.affiliation: Department of Forensic Medicine, Medical College of Shantou University, 22 Xinling Road, Shantou 515031, Guangdong, People's Republic of China. laurelshi@yahoo.com.cn
authors.forename: Gui-zhi
authors.initials: GZ
authors.lastname: Shi
authors.forename: Lu-xia
authors.initials: LX
authors.lastname: Gong
authors.forename: Xiao-hu
authors.initials: XH
authors.lastname: Xu
authors.forename: Wen-ying
authors.initials: WY
authors.lastname: Nie
authors.forename: Qian
authors.initials: Q
authors.lastname: Lin
authors.forename: Yi-sheng
authors.initials: YS
authors.lastname: Qi
mesh_terms: D016022:Case-Control Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA