[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].
OBJECTIVE
To investigate if the KCNQ4 gene contributes to a Chinese non-syndromic hearing loss pedigree and to detect the gene mutations in the pedigree using candidate approach.


METHODS
PCR-SSCP and clone sequencing were performed to identify the mutations and polymorphism in PCR products of KCNQ4 coding sequence in the six-generations pedigree of autosomal dominant hereditary hearing loss.


RESULTS
Mutations and polymorphism detection were performed on the KCNQ4 coding sequence in 36 family members of the pedigree. A molecular polymorphism marker located in the exon2 and exon3 intron sequence, which resulted from a copy variation of 47 base pairs insertion or deletion, was found in KCNQ4 sequence.


CONCLUSIONS
A new molecular polymorphism marker with different genotypes was proved to locate at the intron sequence between at exon2 and exon3. The correlation between genotype and phenotype was analyzed. Deaf individuals were accompanied by the increase of the intron copies in the family. These findings suggest that the changes of the copies of intron between exon2 and exon3 of KCNQ4 might be a specific marker for the hearing loss of the pedigree.
Wang
Qiuju
Q
Department of Otorhinolaryngology, Head and Neck Surgery, Chinese PLA Otorhinolaryngology Institute, Chinese PLA General Hospital, Beijing 100853, China.
Cao
Juyang
J
Li
Ning
N
Yang
Yang
Y
Wang
Qigui
Q
Yu
Liming
L
Han
Dongyi
D
Yang
Weiyan
W
D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D051656:KCNQ Potassium Channels; D008297:Male; D009154:Mutation; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
D051656:KCNQ Potassium Channels; C117367:KCNQ4 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated