High Frequency of the p.R34X Mutation in the <i>TMC1</i> Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

Said, Mariem Ben; Hmani-Aifa, Mounira; Amar, Imen; Baig, Shahid Mahmood; Mustapha, Mirna; Delmaghani, Sedigheh; Tlili, Abdelaziz; Ghorbel, Abdelmonem; Ayadi, Hammadi; Camp, Guy Van; Smith, Richard J.H.; Tekin, Mustafa; Masmoudi, Saber

doi:10.1089/gtmb.2009.0174

Cited by 39 publications

(16 citation statements)

References 22 publications

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“…we selected a family based on the auditory phenotype of the three affected siblings (IV.1, IV.2, and IV.3), who were affected by prelingual, symmetric, moderate to severe hearing impairment, with audiograms showing down-sloping curves ( Figure 1C). We did not detect mutations in LRTOMT, OTOF, and TMC1, three DFNB genes previously shown to be involved in Maghrebian populations (11)(12)(13)(14), by Sanger sequencing of the coding exons in patient IV.1. We therefore carried out whole-exome sequencing on pooled genomic DNA from two affected siblings, as previously described (7).…”

Section: Resultsmentioning

confidence: 59%

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Behlouli

Bonnet

Abdi

et al. 2016

International Journal of Pediatric Otorhinolaryngology

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Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb.

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Section: Resultsmentioning

confidence: 59%

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Behlouli

Bonnet

Abdi

et al. 2016

International Journal of Pediatric Otorhinolaryngology

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“…2 On the basis of the linkage analysis between the mutation and polymorphic markers, it may arise from a common ancestor dating back to 1075-1900 years. 89 This mutation was found only in one family from Iran. 2 Another mutation, 77611 G4A, with the same frequency was also determined in Iranian families.…”

Section: Tecta Genementioning

confidence: 97%

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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“…TMC1 mutations seem a rather common cause of recessive deafness in Indian, Pakistani, Turkish, and Tunisian families (158, 161, 162). One mutation, c.100C > T (p.R34X) seems especially frequent as a cause of ARNSHL (163) and has been shown to have arisen from two founders (164). …”

Section: Genes With Other or Unknown Functionsmentioning

confidence: 99%

Autosomal recessive nonsyndromic deafness genes: a review

Duman¹

2012

Front Biosci

130

104

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More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93 percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.

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High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

Cited by 39 publications

References 22 publications

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

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

Autosomal recessive nonsyndromic deafness genes: a review

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