A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

Alasti, Fatemeh; Sanati, Mohammad Hossein; Behrouzifard, Amir Hossein; Sadeghi, Akram; Brouwer, Arjan P.M. de; Kremer, Hannie; Smith, Richard J.H.; Camp, Guy Van

doi:10.1016/j.ijporl.2007.09.023

Cited by 41 publications

(38 citation statements)

References 15 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: 79%

“…[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: 79%

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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: 79%

Section: Tecta Genementioning

confidence: 79%

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

et al. 2010

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“…Mutations in Tecta cause recessive (DFNB21) and dominant (DFNA8/12) forms of human hereditary deafness (17)(18)(19), and a dominant missense mutation in Ceacam16 (DFNA4) has been identified recently as a cause of late-onset progressive hearing loss in an American family (15). Mutations in Tecta are one of the most common causes of autosomal-dominant, nonsyndromic hereditary hearing loss (20), and mouse models for the recessive (21) and dominant (22) forms of deafness arising from mutations in Tecta have been created.…”

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confidence: 99%

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation

Lukashkin

Legan

Weddell

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

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The gene causative for the human nonsyndromic recessive form of deafness DFNB22 encodes otoancorin, a 120-kDa inner ear-specific protein that is expressed on the surface of the spiral limbus in the cochlea. Gene targeting in ES cells was used to create an EGFP knock-in, otoancorin KO (Otoa EGFP/EGFP ) mouse. In the Otoa EGFP/EGFP mouse, the tectorial membrane (TM), a ribbon-like strip of ECM that is normally anchored by one edge to the spiral limbus and lies over the organ of Corti, retains its general form, and remains in close proximity to the organ of Corti, but is detached from the limbal surface. Measurements of cochlear microphonic potentials, distortion product otoacoustic emissions, and basilar membrane motion indicate that the TM remains functionally attached to the electromotile, sensorimotor outer hair cells of the organ of Corti, and that the amplification and frequency tuning of the basilar membrane responses to sounds are almost normal. The compound action potential masker tuning curves, a measure of the tuning of the sensory inner hair cells, are also sharply tuned, but the thresholds of the compound action potentials, a measure of inner hair cell sensitivity, are significantly elevated. These results indicate that the hearing loss in patients with Otoa mutations is caused by a defect in inner hair cell stimulation, and reveal the limbal attachment of the TM plays a critical role in this process.T he sensory epithelium of the cochlea, the organ of Corti ( Fig. 1), contains two types of hair cell, the purely sensory inner hair cells (IHCs) and the electromotile, sensorimotor outer hair cells (OHCs). These cells are critically positioned between two strips of ECM, the basilar membrane (BM) and the tectorial membrane (TM). Signal processing in the cochlea is initiated when sound-induced changes in fluid pressure displace the BM in the transverse direction, causing radial shearing displacements between the surface of the organ of Corti (the reticular lamina) and the overlying TM (1). The radial shear is detected by the hair bundles of the IHCs and the OHCs (2), with the stereocilia of the OHC hair bundles forming an elastic link between the organ of Corti and the overlying TM (3). Deflection of the stereocilia gates the hair cell's mechanoelectrical transducer (MET) channels, thereby initiating a MET current (4) that promotes active mechanical force production by the OHCs, which, in turn, influences mechanical interactions between the TM and the BM (5, 6). This nonlinear frequency-dependent enhancement process, which boosts the sensitivity of cochlear responses to lowlevel sounds and compresses them at high levels, is known as the cochlear amplifier (7).Whereas the hair bundles of the OHCs are imbedded into the TM and therefore directly excited by relative displacement of the undersurface of the TM and the reticular lamina, those of the IHCs are not in direct contact with the TM, and the way in which they are driven by motion of the BM remains unclear. Intracellular recordings of the receptor potent...

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“…Missense mutations cause dominant hearing loss, the phenotype of which depends on the domain and residue affected (Verhoeven et al 1998;Alloisio et al 1999;Balciuniene et al 1999;MorenoPelayo et al 2001;Iwasaki et al 2002;Pfister et al 2004;Plantinga et al 2006;Meyer et al 2007a). All recessive mutations known thus far are of a truncating nature (i. e., splice site, frameshift, and nonsense mutations or a large deletion of exon 10) and cause moderate to profound prelingual deafness (Mustapha et al 1999;Naz et al 2003;Meyer et al 2007b;Alasti et al 2008). At present, two transgenic mice have been generated with mutations in Tecta: a mouse with a recessive deletion of the entactin domain of Tecta (Tecta ÁENT=ÁENT ) and a mouse with the Y1870C mutation in the ZP domain of Tecta (Tecta Y1870C/+ ).…”

Section: Introductionmentioning

confidence: 99%

“…The transgenic mouse homozygous for a deletion in the entactin G1-like domain of Tecta (Tecta ÁENT=ÁENT ) has a tectorial membrane that lacks all known noncollagenous structures, is primarily composed of randomly organized collagen fibrils, and is completely detached from both the organ of Corti and the spiral limbus (Legan et al 2000). Mice heterozygous for this deletion have attached tectorial membranes of normal morphology, and heterozygous carriers of recessive, inactivating, human TECTA mutations have normal hearing (Mustapha et al 1999;Naz et al 2003;Meyer et al 2007b, Alasti et al 2008. The Tecta ÁENT=ÁENT mouse reveals a major role for the tectorial membrane in the hearing process: This extracellular matrix ensures that the outer hair cells can effectively respond to basilar membrane motion and deliver feedback with the appropriate gain and timing required for sound amplification (Legan et al 2000).…”

Section: Introductionmentioning

confidence: 99%

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

Moreno-Pelayo

Goodyear

Mencía

et al. 2008

JARO

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The TECTA gene encodes alpha-tectorin (TECTA), a major noncollagenous component of the tectorial membrane (TM). In humans, mutations in TECTA lead to either dominant (DFNA8/A12) or recessive (DFNB21) forms of nonsyndromic hearing loss. All missense mutations in TECTA that have been reported thus far are associated with the dominant subtype, whereas those leading to recessive deafness are all inactivating mutations. In this paper, we characterize a spontaneous missense mutation (c.1046C 9A, p.A349D) arising in the mouse Tecta gene that is, unlike all previously reported missense mutations in TECTA, recessive. The morphological phenotype of the Tecta A349D/A349D mouse resembles but is not identical to that previously described for the Tecta ÁENT=ÁENT mouse. As in the Tecta ÁENT=ÁENT mouse, the TM is completely detached from the surface of the organ of Corti and spiral limbus, lacks a striated-sheet matrix, and is deficient in both betatectorin (Tectb) and otogelin. A significant amount of Tecta is, however, detected in the TM of the Tecta A349D/A349D mouse, and numerous, electrondense matrix granules are seen interspersed among the disorganized collagen fibrils. Mutated Tecta A349D is therefore incorporated into the TM but presumably unable to interact with either Tectb or otogelin. The Tecta A349D/A349D mouse reveals that missense mutations in Tecta can be recessive and lead to TM detachment and suggests that should similar mutations arise in the human population, they would likely cause deafness.

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A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

Cited by 41 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

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

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