[Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].
Hereditary non-syndromic sensorineural hearing loss is a genetically highly heterogeneous group of disorders. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (DFNA) have been identified by linkage analysis. Here we report a huge family with late onset autosomal dominant hereditary non-syndromic hearing loss. In this family, 73 of 170 family members have been conducted physical examination, pure-tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 39 of 73 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. After exclusion of the 14 known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 382 highly informative microsatellite markers at approximately 9.2 cM intervals throughout the genome. Linkage analysis was carried out under a fully penetrant autosomal dominant mode of inheritance with no phenocopies. A maximum two-point LOD score of 6.69 at theta=0 was obtained for marker D14S1040. Haplotype analysis placed the locus within a 7.6 cM genetic interval defined by marker D14S1021 and D14S70, overlapping with the DFNA9 locus.
Sun
Han-Jun
HJ
Department of Otolaryngology Head and Neck Surgery, PLA General Hospital, Beijing 100853, China. hanjun_gg@yahoo.com.cn
Tao
Ran
R
Cheng
Jing
J
Yang
Shu-Zhi
SZ
Cao
Ju-Yang
JY
Yu
Li-Ming
LM
Hong
Meng-Di
MD
Feng
Guo-Yin
GY
Dai
Pu
P
Yuan
Hui-Jun
HJ
Han
Dong-Yi
DY
He
Lin
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D015894:Genome, Human / Q000235:genetics; D006239:Haplotypes; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins