High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
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High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. / Borck, G; Rainshtein, L; Hellman-Aharony, S; Volk, Alexander; Friedrich, K; Taub, E; Magal, N; Kanaan, M; Kubisch, Christian; Shohat, M; Basel-Vanagaite, L.
in: CLIN GENET, Jahrgang 82, Nr. 3, 3, 2012, S. 271-276.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
AU - Borck, G
AU - Rainshtein, L
AU - Hellman-Aharony, S
AU - Volk, Alexander
AU - Friedrich, K
AU - Taub, E
AU - Magal, N
AU - Kanaan, M
AU - Kubisch, Christian
AU - Shohat, M
AU - Basel-Vanagaite, L
PY - 2012
Y1 - 2012
N2 - Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. We have identified and clinically evaluated three consanguineous families of Israeli Arab origin with prelingual non-syndromic hearing impairment and absent otoacoustic emissions in a total of eight affected individuals. All the families originate from the same village and bear the same family name. We have identified a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene in affected individuals from these families. Among the inhabitants of the village, we found an exceptionally high carrier frequency of ~1 in 12 individuals (7/85; 8.2%). The high prevalence of hearing impairment can be explained by a founder effect and the high consanguinity rate among the inhabitants of this village.
AB - Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. We have identified and clinically evaluated three consanguineous families of Israeli Arab origin with prelingual non-syndromic hearing impairment and absent otoacoustic emissions in a total of eight affected individuals. All the families originate from the same village and bear the same family name. We have identified a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene in affected individuals from these families. Among the inhabitants of the village, we found an exceptionally high carrier frequency of ~1 in 12 individuals (7/85; 8.2%). The high prevalence of hearing impairment can be explained by a founder effect and the high consanguinity rate among the inhabitants of this village.
KW - Humans
KW - Genes, Recessive
KW - Pedigree
KW - Codon, Nonsense
KW - Haplotypes
KW - Nerve Tissue Proteins/genetics
KW - Israel
KW - Arabs
KW - Gene Frequency
KW - Hearing Loss/ethnology/genetics
KW - Humans
KW - Genes, Recessive
KW - Pedigree
KW - Codon, Nonsense
KW - Haplotypes
KW - Nerve Tissue Proteins/genetics
KW - Israel
KW - Arabs
KW - Gene Frequency
KW - Hearing Loss/ethnology/genetics
M3 - SCORING: Journal article
VL - 82
SP - 271
EP - 276
JO - CLIN GENET
JF - CLIN GENET
SN - 0009-9163
IS - 3
M1 - 3
ER -
