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OTOSCLEROSIS 4; OTSC4

OTOSCLEROSIS 4; OTSC4

Cytogenetic location: 16q22.1-q23.1 Genomic coordinates (GRCh38): 16:66,600,000-79,200,000▼ Clinical FeaturesBrownstein et al. (2006) examined 12 affected an...

Cytogenetic location: 16q22.1-q23.1 Genomic coordinates (GRCh38): 16:66,600,000-79,200,000

▼ Clinical Features
Brownstein et al. (2006) examined 12 affected and 12 unaffected members of a 5-generation Israeli family with otosclerosis. All of the otosclerotic members of the family experienced progressive hearing loss, beginning late in the third decade to the fifth decade; the female members of the family reported first noticing hearing loss about a decade sooner than the males. There was large variability between affected individuals in age at onset, type of hearing loss, shape of audiogram, and symmetry of hearing loss. Eight patients had bilateral and 3 patients had unilateral conductive or mixed hearing loss, and 1 patient had sensorineural hearing loss. There were no reports of tinnitus.

▼ Mapping
Brownstein et al. (2006) performed genomewide linkage analysis in 24 members of a 5-generation Israeli pedigree segregating otosclerosis in an autosomal dominant age-dependent fashion with reduced penetrance. A maximum 2-point lod score of 3.97 was found on chromosome 16q22.1-q23.1 (theta = 0); recombination analysis defined a 9- to 10-Mb region flanked by markers D16S3107 and D16S3097.

Tags: 16q22.1, 16q23.1