Molecular genetics of hearing loss

Annual Review of Genetics

Volumn 35, Issue , 2001, Pages 589-646

  Petit, C ^a   Levilliers, J ^a   Hardelin, J P ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

Audition; Cochlea; Deafness genes; Hair cells; Human genetics

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); CADHERIN; CLAUDIN; COCHLIN; COLLAGEN TYPE 11; CONNEXIN 26; GAP JUNCTION PROTEIN; MEMBRANE PROTEIN; MYOSIN; OTOFERLIN; PROTEIN; SERINE PROTEINASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; COCHLEA; COCHLEA DUCT; EXTRACELLULAR MATRIX; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HAIR CELL; HEARING LOSS; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; USHER SYNDROME;

ANIMALS; DEAFNESS; HUMANS; MICE;

EID: 0035675828     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.35.102401.091224     Document Type: Review

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101. Modifier genes of hereditary hearing loss
102. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
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104. Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor
105. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
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107. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
108. PDZ domains in synapse assembly and signalling
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111. A type VII myosin encoded by the mouse deafness gene Shaker-1
112. Identification of a 120 kd hair-bundle myosin located near stereociliary tips
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116. Carrier rates in the midwestern United States for GJB2 mudations causing inherited deafness
117. Mouse egg extracellular coat is a matrix of interconnected filaments possessing a structural repeat
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146. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
147. Neuronal KCNQ potassium channels: Physiology and role in disease
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151. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
152. The deafness locus (dn) maps to mouse chromosome 11
153. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
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159. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
160. +-channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
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162. Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
163. Molecelar cloning of chick β-tectorin, an extracellular matrix molecule of the inner ear
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166. Audosomal-dominant congenital severe sensorineural hearing loss. Localisation of a disease gene to chromosome 11q by linkage in an Austrian family
167. Autosomal-dominant, prelingual, non-progressive sensorineeral hearing loss: Localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family
168. Bni1p implicated in cytoskeletal control is a putative target of Rho1p small GTP binding protein in Saccharomyces cerevisiae
169. 2+-ATPase isoform 2
170. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
171. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
172. The gap junction communication channel
173. The phenotype of DFNA13/COL11A2: Non-syndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment
174. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin/catenins complex
175. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
176. Further characterization of the DFNA1 audiovestibular phenotype
177. A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
178. A new locus for nonsyndromic hereditary hearing impairment DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration
179. Mutations in GJB6 cause hidrotic ectodermal dysplasia
180. Expression of the gap-junction connexins 26 and 30 in the rat cochlea
181. Heteromeric gap junction channels in bat hepatocytes in which the expression of connexin26 is induced
182. A targeted deletion in α-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback
183. Dhe mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system
184. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment
185. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
186. Low frequency hereditary deafness in man with childhood onset
187. The gene for an inherited form of deafness maps to chromosome 5q31
188. Contribution of connexin 26 mutations to non-syndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
189. 2+/phospholipid-binding protein, depends on rab3A/3C
190. A mutation in PDS causes non-syndromic recessive deafness
191. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and Shaker-2
192. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
193. Cochlear implant histopathology
194. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy
195. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
196. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
197. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
198. Mutations in connexin31 underlie rececsive as well as dominant non-syndromic hearing loss
199. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
200. Connexin 31 (GJB3) is expresced in the peripheral and auditory nerves and causes neuropathy and hearing impairment
201. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
202. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
203. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-q13
204. Developmental expression of the potassium current IK,n contributes to maturation of mouse outer hair cells
205. Gating-spring models of mechanoelectrical transduction by hair cells of the internal ear
206. Connexin26 gene mutations in congenitally deaf children: Pitfalls for genetic counselling
207. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness
208. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
209. Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
210. Brain 4: A novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression
211. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population
212. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
213. Mutation analysis of the mouse myosin VIIA deafness gene
214. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
215. MY06, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
216. Structural determinants of KvLQT1 control by the KCNE family of proteins
217. Recherches sur l'origine de la surdi-mutité
218. Du mariage entre parents considéré comme cause de la surdimutité congénitale
219. Unconventional myosins in cell movement, membrane traffic, and signal transduction
220. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness
221. Molecular physiology and pathophysiology of tight junctions: I. Tight junction structure and function: Lessons from mutant animals and proteins
222. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
223. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
224. A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid-freqeency hearing loss in a Spanish family
225. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
226. Cx26 deafness: Mutation analysis and clinical variability
227. An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
228. Modifier genes in mice and humans
229. K,n in outer hair cells of guinea pig cochlea
230. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher
231. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
232. Genetic analysis of vertebrate sensory hair cell mechanosensation: The zebrafish circler mutands
233. Selective permeability of different connexin channels to the second messenger inositol 1,4,5-trisphosphate
234. mdfw: A deafness susceptibility locus that interacts with deaf waddler (dfw)
235. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DNFA10, maps to chromosome 6
236. Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya
237. Tails of unconventional myosins
238. Connexin26 mutations associated with nonsyndromic hearing loss
239. Calcium-triggered exocytosis and endocytosis in an isolated presynaptic cell: Capacitance measurements in saccular hair cells
240. Deaf mutism and goitre
241. Phospholipid binding by a synaptic vesicle protein homologous to the regulatory region of protein kinace C
242. Genes responsible for human hereditary deafness: Symphony of a thousand
243. Usher syndrome: From genetics to pathogenesis
244. Hereditary hearing loss
245. Radiological malformations of the ear in Pendred syndrome
246. The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear
247. Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule
248. Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear
249. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
250. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation
251. Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
252. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
253. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
254. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
255. Molecular genetics of human retinal disease
256. Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development
257. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
258. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
259. Ionic currents in isolated vestibular hair cells from the guinea-pig crista ampullaris
260. Dominant modifier DFNM1 suppresses recessive deafness DFNB26
261. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
262. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
263. Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells
264. Polypeptide composition of the mammalian tectorial membrane
265. A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
266. Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss
267. 2+-binding domain
268. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
269. Mapping and characterization of a novel cochlear gene in human and in mouse: A positional candidate gene for a deafness disorder, DFNA9
270. A new direction for myosin
271. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
272. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
273. Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32
274. Effect of absence of cochlear outer hair cells on behavioural auditory threshold
275. 2+/calmodulin-dependent protein kinase II
276. Expression of myosin VIIA during mouse embryogenesis
277. Accumulation of potassium in scala vestibuli perilymph of the mammalian cochlea
278. Direct measurement of longitudinal endolymph flow rate in the guinea pig cochlea
279. Ks potassium channel
280. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
281. Genetic study of mitochondrially inherited sensorineural heating impairment in eight large families from Spain and Cuba
282. Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-q24
283. A constitutively open potassium channel formed by KCNQ1 and KCNE3
284. Modulation of RNA function by aminoglycoside antibiotics
285. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange
286. Connexin mutations and hearing loss
287. Functional differencec of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
288. The Pendred syndrome gene encodes a chloride-iodide transport protein
289. Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
290. Association of mitochondrial DNA deletions and cochlear pathology: A molecular biologic tool
291. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
292. Role of myosin VI in the differentiation of cochlear hair cells
293. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
294. Pendred syndrome maps to chromosome 7q21-q34 and is caused by an intrinsic defect in thyroid iodine organification
295. Ligand-gated ion channel interactions with cytoskeletal and signaling proteins
296. Rabphilin-3A, a putative target protein for smg p25A/rab3A p25 small GTP-binding protein related to synaptotagmin
297. Targeted disruption of Otogelin results in deafness and severe imbalance
298. Twister mice are defective for otogelin, a component specific to inner ear acellular membranes
299. Diverse functions of vertebrate gap junctions
300. 2+ resorption
301. The prevalence and expression of inherited connexin 26 mutations associated with non-syndromic hearing loss in the Israeli population
302. 3- exchanger in the kidney cortex
303. The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency
304. Connexin43 and connexin45 form gap junctions with different molecular permeabilities in osteoblastic cells
305. Genetic heating loss: A historical overview
306. Origin and electrochemical composition of endolymph in the cochlea
307. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
308. 2+-ATPase gene cause deafness in deafwaddler mice
309. Identification of a proline residue as a transduction element involved in voltage gating of gap junctions
310. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)] gene
311. Mechanism generating endocochlear potential: Role played by intermediate cells in stria vascularis
312. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
313. Comparative surface studies of ototoxic effects of various aminoglycoside antibiotics on the organ of Corti in the guinea pig. A scanning electron microscopic study
314. KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel
315. Ser(UCN) gene
316. Cytoskeleton: Getting to the point with myosin VI
317. The diversity of molecular motors: An overview
318. Localization of a gene for otosclerosis to chromosome 15q25-q26
319. The development of the vertebrate inner ear
320. The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness
321. Rat connexins 30.3 and 31 are expressed in the kidney
322. Three-dimensional structure of a recombinant gap junction membrane channel
323. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
324. Prevalence of mitochondrial gene mutations among hearing impaired patients
325. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
326. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15
327. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
328. A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-q36
329. + channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
330. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
331. Nonsyndromic heating impairment is associated with a mutation in DFNA5
332. Selectivity of connexin-specific gap junctions does not correlate with channel conductance
333. DOC2 proteins in rat brain: Complementary distribution and proposed function as vesicular adapter proteins in early stages of secretion
334. Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)
335. Ser(UCN) gene
336. Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
337. A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-q24
338. Mutations in the human α-tectorin gene cause autosomal dominant nonsyndromic hearing impairment
339. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
340. Mutations in a new gene encoding a protein of the hair bundle cause nonsyndromic deafness at the DFNB16 locus
341. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
342. Autosomal dominant and recessive osteochondrodysplasia associated with the COL11A2 locus
343. X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34
344. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
345. Effects of formate and oxalate on volume absorption in rat proximal tubule
346. Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion
347. Regulation of connexin43 gap junctional intercellular communication by mitogen-activated protein kinase
348. Cooperation between mDia1 and ROCK in Rho-induced actin reorganization
349. p140mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin
350. Localization of the Usher syndrome type 1D gene (Ush1D) to chromosome 10
351. Localization of the Usher syndrome type 1F (Ush1F) to chromosome 10
352. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
353. POU-domain proteins: Structure and function of developmental regulators
354. Defective myosin VITA gene responsible for Usher syndrome type 1B
355. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
356. Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
357. Myosin VI is an actin-based motor that moves backwards
358. Human gap junction protein connexin31: Molecular cloning and expression analysis
359. Connexin mutations in deafness
360. Genetic diseases and gene knockouts reveal diverse connexin functions
361. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
362. High frequency hearing loss correlated with mutations in the GJB2 gene
363. Expression of connexin 31 in the developing mouse cochlea
364. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment
365. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development
366. Requirement for Brn-3c in maturation and survival, but not in fate determination of inner hair cells
367. OTOF encodes multiple long and short isoforms: Genetic evidence that the long ones underlie the recessive deafness DFNB9
368. A mutation in OTOF, encoding otoferlin, a FER-1 like protein, causes DFNB9, a nonsyndromic form of deafness
369. Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: Identification as an allele of waltzer
370. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
371. Dia1 proteins participate in the regulation of outer hair cell motility by acetylcholine
372. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins
373. Fine structure of the intracochlear potential field. I. The silent current
374. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis