A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Mustapha, Mirna; Chardenoux, Sébastien; Nieder, Alexandre; Salem, Nabiha; Weissenbach, Jean; El-Zir, Elie; Loiselet, Jacques; Petit, Christine

doi:10.1038/sj.ejhg.5200177

Cited by 42 publications

(28 citation statements)

References 24 publications

(29 reference statements)

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“…Mutations in consensus splice sites are one of the most common disease-causing mutations (28). Mutations in genes encoding two of the inner ear-restricted proteins, ␣-tectorin and otogelin, have already been shown to cause deafness (7,(29)(30)(31). Further evidence supports the rare occurrence of this form of deafness.…”

Section: Identification Of a Mouse Inner Ear Cdna Encoding A Gpi-anchmentioning

confidence: 60%

“…PCR for the ubiquitously expressed Hprt gene with forward primer 5Ј-576-GCTGGTGAAAAGGACCTCT and reverse primer 5Ј-824-CACAGGACTAGAACACCTGC provided a positive control. The reactions were carried out following a standard protocol, using 30 Anti-otoancorin Sera. Two rabbits were injected with a mixture of two nonoverlapping synthetic peptides derived from the sequence of the mature otoancorin protein, peptide 1: NH2-465-CDHKDLWQVLRSPLS-COOH, and peptide 2: NH2-730-CRLLEQWGPPENWTAE-COOH.…”

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confidence: 99%

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Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Zwaenepoel

Mustapha

Leibovici

et al. 2002

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

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A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at identifying transcripts specifically expressed in the inner ear. This inner ear-specific protein, otoancorin, shares weak homology with megakaryocyte potentiating factor͞ mesothelin precursor. Otoancorin is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. In the cochlea, otoancorin is detected at two attachment zones of the tectorial membrane, a permanent one along the top of the spiral limbus and a transient one on the surface of the developing greater epithelial ridge. In the vestibule, otoancorin is present on the apical surface of nonsensory cells, where they contact the otoconial membranes and cupulae. The identification of the mutation (IVS12؉2T>C) in the corresponding gene OTOA in one consanguineous Palestinian family affected by nonsyndromic recessive deafness DFNB22 assigns an essential function to otoancorin. We propose that otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. T he mammalian inner ear consists of the cochlea, the organ of hearing, and the vestibule, which is responsible for balance. The vestibule is composed of five separate organs, the saccule, the utricle, and three cristae of the semicircular canals. The apical surface of each sensory organ is covered by an acellular gel. The tectorial membrane (TM) lies over the surface of the organ of Corti in the cochlea, an otoconial membrane covers the macula of the utricle and saccule, and a cupula sits on top of each crista in the ampullae of the semicircular canals. Relative motion generated between the apical surface of the sensory epithelium and the overlying acellular gel, in response to sound-induced basilar membrane motion in the cochlea or head motion in the vestibule, results in deflection of the hair cell's stereociliary bundle, thereby modulating the gating of mechanotransducer channels.With the exception of prestin (1), all of the inner ear-specific proteins described so far in mammals, namely ␣-and ␤-tectorin (2), otogelin (3), and otoconin-95 (4), are components of these acellular gels. In the mouse inner ear, ␣-and ␤-tectorin are components of the tectorial and otoconial membranes but are not present in the cupulae (2). Otogelin is present in all of the acellular gels (3). Otoconin-95 is the major component of the otoconia, dense biominerals that load the otoconial membrane and provide inertial mass (4, 5), and is also present in the cupulae. The mammalian TM is a complex structure composed of collagen fibrils imbedded in a collagenase-insensitive striated-sheet matrix (6). Otogelin is associated mainly with the collagen fibril bundles (3, 7), whereas ␣-and ␤-tectorin are major components of the striated-sheet matrix (8, 9). Collagens are not prominent components of either the otoconial membranes or cupulae. Thus far, little is known about ...

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Section: Identification Of a Mouse Inner Ear Cdna Encoding A Gpi-anchmentioning

confidence: 60%

mentioning

confidence: 99%

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Zwaenepoel

Mustapha

Leibovici

et al. 2002

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

Self Cite

158

149

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“…The original proposed linkage to chromosome 15q in the Austrian family was later on withdrawn and relocated to chromosome 11q22-24 Verhoeven et al 1997Verhoeven et al , 1998. When the mutations proved to be in the same gene (TECTA), which encodes alpha-tectorin, the locus was redesignated DFNA8/12 (Mustapha et al 1998).…”

Section: Introductionmentioning

confidence: 99%

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Plantinga

Cremers

Huygen

et al. 2006

JARO

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In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear. Because DFNA8/12 affects the tectorial membrane, patients with DFNA8/12 may show specific audiometric characteristics. In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection. Four out of five subjects showed an elevation of pure-tone thresholds, acoustic reflex thresholds, and loudness discomfort levels. Loudness growth curves are parallel to those found in normalhearing individuals. Suprathreshold measures such as difference limen for frequency modulated pure tones, gap detection, and particularly speech perception in noise are within the normal range. Distortion otoacoustic emissions are present at the higher stimulus level. These results are similar to those previously obtained from a Dutch DFNA13 family with midfrequency sensorineural hearing impairment. It seems that a defect in the tectorial membrane results primarily in an attenuation of sound, whereas suprathreshold measures, such as otoacoustic emissions and speech perception in noise, are preserved rather well. The main effect of the defects is a shift in the operation point of the outer hair cells with near intact functioning at high levels. As most test results reflect those found in middle-ear conductive loss in both families, the sensorineural hearing impairment may be characterized as a cochlear conductive hearing impairment.

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“…The major non-collagenous components of the tectorial membrane, ␣-and ␤-tectorin, were identified recently as the products of single copy genes (12). Missense mutations in the ␣-tectorin gene were found in five families with non-syndromic hearing impairment (13)(14)(15)(16). In mice, a targeted deletion in ␣-tectorin revealed a loss of cochlear amplification (1).…”

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confidence: 99%

Thyroid Hormone-deficient Period Prior to the Onset of Hearing Is Associated with Reduced Levels of β-Tectorin Protein in the Tectorial Membrane

Knipper¹,

Richardson²,

Mack³

et al. 2001

Journal of Biological Chemistry

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The genes for ␣-and ␤-tectorin encode the major noncollagenous proteins of the tectorial membrane. Recently, a targeted deletion of the mouse ␣-tectorin gene was found to cause loss of cochlear sensitivity (1). Here we describe that mRNA levels for ␤-tectorin, but not ␣-tectorin, are significantly reduced in the cochlear epithelium under constant hypothyroid conditions and that levels of ␤-tectorin protein in the tectorial membrane are lower. A delay in the onset of thyroid hormone supply prior to onset of hearing, recently described to result in permanent hearing defects and loss of active cochlear mechanics (2), can also lead to permanently reduced ␤-tectorin protein levels in the tectorial membrane. ␤-Tectorin protein levels remain low in the tectorial membrane up to one year after the onset of thyroid hormone supply has been delayed until postnatal day 8 or later and are associated with an abnormally structured tectorial membrane and the loss of active cochlear function. These data indicate that a simple delay in thyroid hormone supply during a critical period of development can lead to low ␤-tectorin levels in the tectorial membrane and suggest for the first time that ␤-tectorin may be required for development of normal hearing.It has been known for many years that thyroid hormone (TH) 1 is necessary for normal development of the auditory system (3-5). Both genetic and acquired neonatal TH deficiency may result in a profound mental disability that is often accompanied by deafness. The existence of various TH-sensitive periods during inner ear development and the success of delayed, corrective TH treatment has recently been investigated (2, 6). These studies revealed that maternal TH prior to the onset of thyroid gland function, as well as TH supply beyond the onset of hearing at postnatal day 12 (P12), was not critical for the development of normal hearing in rats (2, 6). However, within the crucial period of time any delay in the rise of TH plasma levels (transient hypothyroidism) leads to permanent hearing defects, though the organ of Corti develops to an organ without obvious structural or neuronal abnormalities (2). Analysis of distortion product otoacoustic emissions revealed that the active cochlear process was TH-dependent and was permanently lost following the induction of a transient TH-free period between E17 and ϾP8 (2). Distortion product otoacoustic emissions are sounds that emanate from the ear and are believed to be produced by the interaction of actively amplified traveling waves on the basilar membrane (7-9). The tectorial membrane plays a crucial role in this active process, because it couples transverse, sound-induced, basilar membrane motion to a radial deflection of the sensory hair bundles. In former studies with rodents (10, 11) it has been observed that the tectorial membrane is distorted as a result of constant hypothyroidism. The major non-collagenous components of the tectorial membrane, ␣-and ␤-tectorin, were identified recently as the products of single copy genes (12). Missen...

show abstract

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Cited by 42 publications

References 24 publications

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Thyroid Hormone-deficient Period Prior to the Onset of Hearing Is Associated with Reduced Levels of β-Tectorin Protein in the Tectorial Membrane

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