A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.
Non-syndromic hearing loss is the most common sensory disorder in humans; 15%-20% of cases are transmitted as a dominant trait (NSDA) with 40 loci having been mapped and 16 genes having been identified. Here, we report the mapping of a novel NSDA locus, DFNA48, to chromosome 12q13-q14 in a large multigenerational Italian family. A maximum lod score of 3.31 was obtained with marker D12S83, whereas markers D12S347 and D12S1703 defined a region of approximately 18 cM. Positional candidate genes are being screened for deafness-causing mutations.
D'Adamo
Pio
P
Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Naples, Italy.
Pinna
Maura
M
Capobianco
Saverio
S
Cesarani
Antonio
A
D'Eustacchio
Angela
A
Fogu
Pina
P
Carella
Massimo
M
Seri
Marco
M
Gasparini
Paolo
P
D002352:Carrier Proteins / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007558:Italy; D008126:Lod Score; D018995:Myosin Heavy Chains; D024462:Myosin Type II; D010375:Pedigree
D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human