2002
DOI: 10.1002/humu.9033
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GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Abstract: Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred … Show more

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Cited by 42 publications
(34 citation statements)
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“…This recessive mutation occurs most frequently in combination with c.35delG resulting in severe to profound hearing impairment (21,22). Less common is the occurrence in conjunction with GJB2 mutations p.R184P and c.167delT (23)(24)(25). Our new observation for the Hungarian population is similar.…”
Section: Gjb2 Promoter and The Non-coding Region The Basal Gjb2mentioning
confidence: 99%
“…This recessive mutation occurs most frequently in combination with c.35delG resulting in severe to profound hearing impairment (21,22). Less common is the occurrence in conjunction with GJB2 mutations p.R184P and c.167delT (23)(24)(25). Our new observation for the Hungarian population is similar.…”
Section: Gjb2 Promoter and The Non-coding Region The Basal Gjb2mentioning
confidence: 99%
“…The outcome of two projects on beta thalassemia and non-syndromic deafness [Najmabadi et al, 2001;Najmabadi et al, 2002a] clearly shows the importance of studying this population for the purpose of determining new mutations or new genes involved in these two globally prevalent diseases. Betathalassemia, the most common genetic disorder in Iran, has been more extensively studied.…”
Section: New Mutations; Rare and New Genesmentioning
confidence: 99%
“…This deletion was the second most frequent connexin mutation reported for NSHI in Spain, France, Israel, Great Britain and Brazil [20,25]. Individuals who are either homozygous for del(GJB6-D13S1830) or compound heterozygotes of del(GJB6-D13S1830) and a mutant allele of GJB2 develop NSHI, resulting in profound to severe HI [26]. The 232bp deletion del(GJB6-D13S1854) also leads to partial loss of GJB6 and has frequently been described in individuals with NSHI in Italy, England and Brazil [27].…”
Section: Introductionmentioning
confidence: 99%