Distinctive audiometric profile associated with DFNB21 alleles of TECTA

Naz, Sadaf; Alasti, Fatemeh; Mowjoodi, Alireza; Riazuddin, Saima; Sanati, Mohammad Hossein; Friedman, Thomas B.; Griffith, AJ; Er, Wilcox

doi:10.1136/jmg.40.5.360

Cited by 53 publications

(43 citation statements)

References 19 publications

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“…7 Three studies have been recorded on TECTA mutations in Iranian population; totally, TECTA mutations were demonstrated in 5 of 121 studied patients. [76][77][78] The five mutations with the same frequency (2 of 242 alleles for each) reported are as follows: c.649insC, 266delT, c.5211C4A, 9.6 kb deletion and c.6203-6218del16 (Figure 2c). [76][77][78] Altogether, the TECTA gene was involved in 10 of 242 alleles (4.13%) in our population.…”

Section: Tecta Genementioning

confidence: 77%

“…[76][77][78] The five mutations with the same frequency (2 of 242 alleles for each) reported are as follows: c.649insC, 266delT, c.5211C4A, 9.6 kb deletion and c.6203-6218del16 (Figure 2c). [76][77][78] Altogether, the TECTA gene was involved in 10 of 242 alleles (4.13%) in our population. a-Tectorin has three types of functional domains: entactin-like domain at N-terminus, four von Willebrand type D domains in the central part of the protein and zona pellucida domain at the C-terminal end.…”

Section: Tecta Genementioning

confidence: 77%

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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: Tecta Genementioning

confidence: 77%

Section: Tecta Genementioning

confidence: 77%

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

et al. 2010

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“…The hearing loss in these families is heterogeneous, ranging from mild to severe, being either prelingual or postlingual and stable or progressive. In addition, homozygous inactivating TECTA mutations were found in three families with prelingual, stable autosomal recessive deafness [12,13]. The fact that heterozygous carriers of these mutations had normal hearing suggests that the mutations in the dominant families exert a dominant-negative or gain of function effect, while mutations in recessive families have a loss of function effect.…”

Section: Introductionmentioning

confidence: 99%

A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by <i>TECTA</i> Mutations

Pfister

Thiele

Camp

et al. 2004

Cell Physiol Biochem

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Background: Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation. Methods/Results: Here we report a Turkish family displaying autosomal dominant inherited HI. Linkage analysis revealed significant cosegregation (LOD score: 4.6) of the disease to markers on chromosome 11q23.3- q24. This region contains the TECTA gene which was subsequently sequenced. A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA protein. This cysteine is located in vWFD4 domain, a protein domain which is supposed to be involved in disulfide bonds and protein-protein interactions. Conclusions: It is conspicuous that the phenotype in this family correlates with other families, also displaying mutations involving conserved cysteines. In all three families these mutations result in progressive HI involving high frequencies. In contrast, mutations which are not affecting the vWFD domains seem to provoke mid-frequency sensorineural HI. Furthermore, evaluation of clinical data in our family revealed a gender effect for the severity of hearing impairment. Males were significantly more affected than females. The identification of the third family displaying a missense mutation in the vWFD domain of alpha- tectorin underlines the phenotype-genotype correlation based on different mutations in TECTA.

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“…Inactivating mutations of TECTA lead to moderate to severe recessively inherited hearing loss in humans which can be more severe in the mid frequencies leading to a flat or U shaped audiogram (Meyer et al, 2007;Naz et al, 2003). TECTA is the major protein of the tectorial membrane which lies over the organ of Corti within the cochlea.…”

Section: Tecta (Dfnb21)mentioning

confidence: 99%

“…More than 65 loci have been mapped for nonsyndromic recessively inherited deafness. Notably, mutations of only some of these genes are associated with stable moderate to severe hearing loss (Chishti et al, 2009;Naz et al, 2003;Villamar et al, 1999;Zwaenepoel et al, 2002). The past few years have revealed mutations in more than 10 genes and loci which can cause variable degrees of hearing loss or progressive deafness in humans.…”

Section: Introductionmentioning

confidence: 99%

Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

Naz¹

2012

Hearing Loss

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Distinctive audiometric profile associated with DFNB21 alleles of TECTA

Cited by 53 publications

References 19 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

A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by <i>TECTA</i> Mutations

Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

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