“Autosomal DEAFNESS (dominant & recessive)”, Victor McKusick, Mendelian Inheritance in Man’, 1966 was the topic of an earlier blog post.
Here I present: “Autosomal-Dominant DEAFNESS”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
In terms of nonsyndromic hearing loss (HL), the chromosomal locations are currently known for 125 LOCI (54 for dominant deafness and 71 for recessive deafness).
Furthermore, 64 GENES have been identified (24 for dominant deafness and 40 for recessive deafness).
There is evidence that autosomal dominant deafness-37 (DFNA37) is caused by heterozygous mutation in the Collagen type-XI alpha-1 (COL11A1) gene on cytogenetic location 1p21.1 and genomic coordinates 1:102,876,473-103,108,522 . The screenshot of the COL11A1 gene 232,050 bp (base pairs) of DNA sequence length is shown BELOW.
