Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Verhoeven, Kristien; Laer, Lut Van; Kirschhofer, Karin; Legan, P. Kevin; Hughes, David C.; Schatteman, Isabelle; Verstreken, M.; Hauwe, P. van; Coucke, Paul; Chen, Achih; Smith, Richard J.H.; Somers, Thomas; Offeciers, F. E.; Heyning, Paul Van de; Richardson, Guy P.; Wachtler, F.; Kimberling, William J.; Willems, Patrick J.; Govaerts, Paul; Camp, Guy Van

doi:10.1038/ng0598-60

Cited by 312 publications

(225 citation statements)

References 15 publications

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“…This membrane as an extracellular matrix covers the neuroepithelium of the cochlea and contacts the stereocilia of hair cells transducing sounds into electrical signals. 71 The TECTA gene encodes a precursor protein of 2155 amino acids, determined to contain 23 exons. Mutations in the TECTA gene have Genetic causes of NSHL in Iran N Mahdieh et al been found in both autosomal dominant and autosomal recessive HL (DFNA8/12 and DFNB21).…”

Section: Tecta Genementioning

confidence: 99%

“…Mutations in the TECTA gene have Genetic causes of NSHL in Iran N Mahdieh et al been found in both autosomal dominant and autosomal recessive HL (DFNA8/12 and DFNB21). [71][72][73][74] All presented missense mutations lead to the dominant form, whereas inactivating mutations bring about recessive HL. 75 TECTA mutations have been detected in Austrian, Belgian, French and Swedish families.…”

Section: Tecta Genementioning

confidence: 99%

“…79 Mutations of various parts of a-tectorin lead to HL at different frequencies and lead to specific genotype-phenotype correlations. 71,[80][81][82] TMC1 gene Mutations in the transmembrane cochlear-expressed gene 1 (TMC1), located on chromosome 9q13-21, can also result in both progressive autosomal dominant and autosomal recessive HL (DFNA36 and DFNB7/DFNB11). 83,84 There are eight vertebrate TMC genes on the basis of their sequence homology.…”

Section: Tecta Genementioning

confidence: 99%

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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: 99%

Section: Tecta Genementioning

confidence: 99%

Section: Tecta Genementioning

confidence: 99%

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

et al. 2010

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“…Several forms of nonsyndromic deafness or balance defect that result from mutations in genes encoding extracellular proteins have been described in humans and mice. These genes include TECTA (Verhoeven et al, 1998), COL11A2 (McGuirt et al, 1999), COCH (Robertson et al, 1998), and Otog (Simmler et al, 2000). The importance of extracellular matrix proteins in inner ear function, the inner ear-restricted MIAL expression pattern, and the existence of an inactive allele suggest that MIAL may contribute to nonsyndromic hearing impairment or balance defect in humans.…”

Section: Figmentioning

confidence: 99%

Identification and Characterization of an Inner Ear-Expressed Human Melanoma Inhibitory Activity (MIA)-like Gene (MIAL) with a Frequent Polymorphism That Abolishes Translation

et al. 2001

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To discover new cochlea-specific genes as candidate genes for nonsyndromic hearing impairment, we searched in The Institute of Genome Research database for expressed sequence tags isolated from the cochlea only. This led to the cloning and characterization of a human gene named melanoma inhibitory activity-like (MIAL; HGMW-approved symbol OTOR alias MIAL) gene. In situ hybridization revealed MIAL expression in a cell layer beneath the sensory epithelium of cochlea and vestibule of human fetal inner ear. No other human tissue, except fetal brain, showed expression of MIAL when analyzed by in situ hybridization or reverse transcription-polymerase chain reaction. The cDNA of the mouse homologue was also cloned and mapped about 80 cM from the top of mouse chromosome 2. In mouse, Mial was also expressed in the cochlea and the vestibule of the inner ear, as well as in brain, eye, limb, and ovary. Expression in mammalian cell cultures showed that MIAL is translated as an ϳ15-kDa polypeptide that is assembled into a covalently linked homodimer, modified by sulfation, and secreted from the cells via the Golgi apparatus. In the human MIAL gene, a frequent polymorphism was discovered in the translation initiation codon (ACG instead of ATG). Of 505 individuals, 48 (9.5%) were ATG/ ACG heterozygous and 1 (0.2%) was homozygous for ACG. No MIAL protein was synthesized in cells transfected with cDNA of the ACG allele. The inner earrestricted expression pattern and the existence of an inactive allele suggest that MIAL may contribute to inner-ear dysfunction in humans.

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“…The linked area on chromosome 11q24 in this family is approximately 20 cM telomeric to FSGS2 locus and has several interesting candidate genes. One such gene, tectorin alpha (TECTA), shares homology with utrophin and is mutated in a dominant form of inherited deafness (33). Utrophin is a paralogue of dystrophin and has two full-length mRNA species, A and B, which have very different expression patterns.…”

Section: Discussionmentioning

confidence: 99%

Autosomal Dominant Progressive Nephropathy with Deafness

Prakash¹,

Chung²,

Sinha³

et al. 2003

Journal of the American Society of Nephrology

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Abstract. Focal segmental glomerulosclerosis (FSGS) and Alport syndrome (AS) are two major causes of end-stage renal disease (ESRD). A few families with autosomal dominant FSGS have been reported with linkage to chromosome 19q13 or 11q22, while AS is usually linked to mutations in type IV collagen (COL4) subunit genes. A phenotype resembling AS may also be seen with myosin heavy chain-9 (MYH9) gene mutations. This study ascertained a multigeneration family (CHP-177) with clinical aspects of both FSGS and AS where we identified a new locus for the trait. A genome-wide scan was performed with 400 markers, and fine mapping was performed for chromosome 11 markers. Data were analyzed by GENEHUNTER and VITESSE under various models. CHP-177 is a 39-member kindred residing near New Delhi, India, with seven affecteds and showed male-to-male transmission. Two members had ESRD. Renal biopsies showed both FSGS lesions and thin glomerular basement membranes. Five of the affecteds also had sensorineural deafness, which involved both low and high frequency in some members. The AS loci, i.e., COL4A3/COL4A4 and MYH9 (LOD scores: Ϫ6.1 and Ϫ4.3, respectively) and FSGS loci, on 19q13 and 11q22, were excluded from linkage. A significant evidence of linkage was observed for 11q24 region, with a multipoint LOD (z-score) of 3.2 for marker D11S4464 at ϭ 0. The z-1 confidence interval for the linked region spans a genetic distance of 7 cM. This study thus reports an autosomal dominant nephropathy with features of both FSGS and AS in which linkage to currently known loci for such phenotypes was excluded and a new locus on 11q24 was identified. The findings suggest further locus heterogeneity for the autosomal dominant nephropathy phenotype.

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Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Cited by 312 publications

References 15 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

Identification and Characterization of an Inner Ear-Expressed Human Melanoma Inhibitory Activity (MIA)-like Gene (MIAL) with a Frequent Polymorphism That Abolishes Translation

Autosomal Dominant Progressive Nephropathy with Deafness

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