A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

Feldmann, Delphine; Maréchal, Cédric Le; Jonard, Laurence; Thierry, Patrick; Czajka, Cécile; Couderc, Rémy; Férec, Claude; Denoyelle, Françoise; Marlin, Sandrine; Fellmann, Florence

doi:10.1016/j.ejmg.2008.11.006

Cited by 46 publications

(39 citation statements)

References 31 publications

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“…A few point mutations in the GJB6 gene have been found to associate with autosomal dominant HL and hidrotic ectodermal dysplasia. 35 Four GJB6 large deletions, a 140 kb deletion 36 or a 150 kb deletion, 37 named del(GJB6-D13S1830) 342 kb, 38 del(GJB6-D13S1854) 232 kb, 39 a 920 kb deletion 40 and del(chr13:19,837,344-19,968,698), 41 have been described to bring about HL in association with a single mutation in the GJB2 gene. Existence of several breakpoints within this region suggests that other unknown deletions may be responsible for GJB2 heterozygotes.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

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: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

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

et al. 2010

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“…Given the presence of relatively high proportion of informative haplotypes in the population, D 0 and v 2 values for the pairing of these three markers were calculated using the 2LD program (Zhao 2004;Kokotas et al 2008;Feldmann et al 2009). D 0 ranges between 0 and 1.…”

Section: Resultsmentioning

confidence: 99%

“…As illustrated in Table 5, the estimated D 0 values were smaller than 0.5. The 2LD program calculated v 2 from the present alleles with (m -1) (n -1) degree of freedom, where m and n represent the number of alleles at markers 1 and 2, respectively (Zhao 2004;Feldmann et al 2009;Carrasquillo et al 1997;Lvarez et al 2005). …”

Section: Resultsmentioning

confidence: 99%

BanI/D13S141/D13S175 Represents a Novel Informative Haplotype at the GJB2 Gene Region in the Iranian Population

Rezaei

Vallian

2011

Cell Mol Neurobiol

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Non-syndromic sensorineural hearing loss (NSHL) represents the most common cause of hearing loss in the Iranian patients. In view of the large numbers of mutations identified in GJB2, mutations analysis of the gene has been time-consuming and cost-ineffective. Alternatively, molecular markers that are highly linked to the GJB2 gene have proven to be useful in carrier detection and prenatal diagnosis of NSHL families. These markers usually show a population-dependent-based haplotype frequency. However, to date, no information on the genotyping and frequency of the markers is present for the Iranian population. In this study, genotyping and analysis of the haplotype frequency of three markers, including BanI, D13S141, and D13S175, at the GJB2 region were investigated. The haplotype frequency was estimated using PHASE program. The input data contained two alleles (+ and -) for BanI, four alleles for D13S141, and seven alleles for D13S175. Among the 42 possible haplotypes examined, four haplotypes showed relatively high frequencies (≥5%). Therefore, a combination of BanI/D13S141/D13S175 could be suggested as an informative haplotype for possible carrier detection and prenatal diagnosis of NSHL in the Iranian population.

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“…Thus, when possible, segregation studies are needed to confirm whether both parents are carriers or not. Sanger sequencing, by overlooking a large deletion in the DFNB1 locus, may lead to a judgment of apparent GJB2 homozygosity 8. Even though the probability is very small, to avoid missing such large deletions in the DFNB1 locus, other DNA tests capable of detecting large deletions should be used in combination for screening the GJB2 gene.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, the potential for such deletions to be present should be kept in mind. To date, six large deletions contributing to HL have been identified in the DFNB1 region 6, 7, 8, 9, 10, 11…”

Section: Introductionmentioning

confidence: 99%

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Abe

Nishio

Yokota

et al. 2018

Clinical Case Reports

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A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

Cited by 46 publications

References 31 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

BanI/D13S141/D13S175 Represents a Novel Informative Haplotype at the GJB2 Gene Region in the Iranian Population

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

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