DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23

Linkage analysis was performed using the Linkage 5.1 software package. 9 Two point lod scores between the deafness locus and each marker were calculated under a fully penetrant autosomal dominant mode of inheritance, setting the disease allele frequency to 0.00001 and considering marker allele frequ...

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Bibliographic Details
Published in:Journal of medical genetics 2003-11, Vol.40 (11), p.832-836
Main Authors: Moreno-Pelayo, M A, Modamio-Høybjør, S, Mencía, A, del Castillo, I, Chardenoux, S, Fernández-Burriel, M, Lathrop, M, Petit, C, Moreno, F
Format: Article
Language:English
Subjects:
1q21-q23
ADNSSHL
Adolescent
Age
Analysis
Automation
autosomal dominant non-syndromic sensorineural hearing loss
Biological and medical sciences
Causes of
Child
Chromosomes
Chromosomes, Human, Pair 1 - genetics
Deoxyribonucleic acid
DFNA49
DNA
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Environmental aspects
Families & family life
Female
Gene mutations
Genes
Genes, Dominant - genetics
Genes, Recessive - genetics
Genetic aspects
Genetic Linkage
Genetic Markers - genetics
Genetic research
Haplotypes
Haplotypes - genetics
Health aspects
Hearing disorders in children
Hearing loss
Hearing Loss, Bilateral - diagnosis
Hearing Loss, Bilateral - genetics
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Hearing protection
Humans
Letter to JMG
linkage analysis
Male
Medical genetics
Medical sciences
Mutation
Non tumoral diseases
non-syndromic sensorineural hearing loss
NSSHL
Otorhinolaryngology. Stomatology
PCR
Pedigree
Physical Chromosome Mapping - methods
Physiological aspects
polymerase chain reaction
short tandem repeats
Sick children
Spain
STRs
Syndrome
Citations: Items that cite this one
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Description
Summary:Linkage analysis was performed using the Linkage 5.1 software package. 9 Two point lod scores between the deafness locus and each marker were calculated under a fully penetrant autosomal dominant mode of inheritance, setting the disease allele frequency to 0.00001 and considering marker allele frequencies to be equal to each other. KCNJ10 consists of two exons 17 and encodes an inwardly rectifying K+ channel subunit that is strongly expressed in the cochlear stria vascularis, where it is crucially involved in the generation of the endocochlear potential, 18, 19 and in the satellite cells that surround the neurones and axons of the cochlear and vestibular ganglia. 20 Knockout mice for KCNJ10 present a profound deafness and severe structural degeneration of the cochlea. 21, 22 KCNJ9 has three exons 23 and codes for a K+ channel with structural and functional similarity to KCNJ10, 24 although its expression has not been reported in the inner ear so far.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.40.11.832