Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Morell, Robert J.; Kim, Hyung Jun; Lj, Hood; Goforth, L; Friderici, Karen H.; Fisher, Rachel; Camp, Guy Van; Ci, Berlin; Oddoux, Carole; Ostrer, Harry; Keats, Bronya J.B.; Tb, Friedman

doi:10.1056/nejm199811193392103

Cited by 522 publications

(407 citation statements)

References 21 publications

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“…14,15 As of June 2010, more than 200 different allelic variants in the GJB2 gene have been ascertained (http://www.hgmd.cf.ac.uk/ac/index.php). 16 The 167delT, 235delC, R143W and W24X mutations are the most common mutations in the Ashkenazi Jewish, 17 Japanese, 18 Ghanian 19,20 and Indian populations, 21,22 respectively (Figure 1). Thus, an ethnic-specific pattern is noted for some mutations of this gene, 16,21 which is different from that reported among various cohorts of Iran.…”

Section: Molecular Geneticsmentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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Section: Molecular Geneticsmentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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“…It is an extremely heterogeneous disorder in which at least 30 reported loci [Van Camp et al, 1997;Zbar et al, 1998;Keats and Berlin, 1999] and mutations in one gene (GJB2) have been shown to be major cause of ARNSD in many different populations [Maw et al, 1995;Gasparini et al, 1997;Kelsell et al, 1997;Park et al, 2000;Morell et al, 1998;Zelante et al, 1997]. We have studied the mutation load of GJB2 in the Iranian population and have found the prevalence to be much lower than in other studied populations (Najmabadi et al, 2001; submitted manuscript).…”

Section: New Mutations; Rare and New Genesmentioning

confidence: 99%

The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research

et al. 2003

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“…In the Caucasian populations (European descendants), a single mutation, c.35delG, accounts for the majority of HL caused by GJB2 mutations, with a carrier frequency varying from 1 to 5% (Gasparini, et al, 2000). Among the Ashkenazi Jewish, in East Asians and in Africans, the predominant mutations are c.167delT, c.235delC mutation, and p.Arg143Trp, respectively (Brobby, et al, 1998;Kudo, et al, 2000;Morell, et al, 1998).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

et al. 2009

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Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness. Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. Methods:We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found.

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Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Cited by 522 publications

References 21 publications

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

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