A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

Moreno-Pelayo, M. A.

doi:10.1136/jmg.38.5.e13

Cited by 43 publications

(39 citation statements)

References 17 publications

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“…Differences in phenotype among DFNA8/12 families appear to be related to the position of the mutations in either the ZP or the ZA domain of a-tectorin as well as the nature of the amino acid substitution (Table 1). Mutations in the ZP and ZA domains have been related to mid-and high-frequency hearing impairment, respectively Verhoeven et al 1998;Govaerts et al 1998;Iwasaki et al 2002;Alloisio et al 1999;Balciuniene et al 1999;Pfister et al 2004;Moreno Pelayo et al 2001). Substitutions replacing cysteines have been implicated in progressive hearing impairment (Alloisio et al 1999;Balciuniene et al 1999;Pfister et al 2004;Moreno Pelayo et al 2001).…”

Section: Discussionmentioning

confidence: 99%

“…Mutations affecting the ZP domain are associated with midfrequency hearing impairment, whereas mutations in the ZA domain are associated with hearing impairment primarily affecting the high frequencies (Table 1) Verhoeven et al 1998;Govaerts et al 1998;Iwasaki et al 2002;Alloisio et al 1999;Balciuniene et al 1999;Pfister et al 2004;Moreno Pelayo et al 2001). Hearing impairment can range from mild to severe and has prelingual or postlingual onset.…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

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A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Plantinga

Brouwer

Huygen

et al. 2006

JARO

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A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of a-tectorin. Mutations affecting the ZP domain of a-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of a-tectorin.

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Section: Discussionmentioning

confidence: 99%

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Plantinga

Brouwer

Huygen

et al. 2006

JARO

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“…[3][4][5][6][7][8][9][10] This gene encodes a-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane that consists of an extracellular matrix overlying the organ of corti, contacting the outer cochlear hair cells, and having a role in intracochlear sound transmission. 11 The a-tectorin is composed of three distinct modules: the entactin G1 domain, the zonadhesin (ZA) domain with von Willebrand factor type D repeats and the zona pellucida (ZP) domain.…”

Section: Introductionmentioning

confidence: 99%

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

et al. 2012

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TECTA gene encodes a-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intracochlear sound transmission. The TECTA mutations are one of the most frequent causes of autosomal dominant (AD) hearing loss and genotype-phenotype correlations are associated with mutations of TECTA in exons according to a-tectorin domains. In this study, we investigated the prevalence of hearing loss caused by TECTA mutations in Japanese AD hearing loss families, and confirmed genotype-phenotype correlation, as well as the intracellular localization of missense mutations in the a-tectorin domain. TECTA mutations were detected in 2.9% (4/139) of our Japanese AD hearing loss families, with the prevalence in moderate hearing loss being 7.7% (4/52), and all patients showed typical genotype-phenotype correlations as previously described. The present in vitro study showed differences of localization patterns between wild type and mutants, and suggested that each missense mutation may lead to a lack of assembly of secretion, and may reduce the incorporation of a-tectorin into the tectorial membrane.

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“…The dominant DFNA8/A12 missense mutations, which affect different residues and domains of human TECTA, result in distinctive audiological phenotypes (Verhoeven et al 1998;Alloisio et al 1999;Balciuniene et al 1999;Moreno-Pelayo et al 2001;Iwasaki et al 2002;Pfister et al 2004;Plantinga et al 2006;Meyer et al 2007a). Thus, missense mutations in the zonadhesin-like region cause high-frequency hearing loss, whereas those in the ZP domain lead to hearing loss in the mid-frequencies.…”

Section: Discussionmentioning

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 cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

Cited by 43 publications

References 17 publications

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

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

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