Учебники / Genetic Hearing Loss Willems 2004

474

[Deafness] genes, 458

hereditary, TECTA mutations, 300–302

mitochondrial mutations, pathophysiology, 187–189

experimental approaches, 189–190

nonsyndromic, 404 cadherin 23, 397

nonsyndromic autosomal recessive, connexins, 209–213

prevalence, England, 457 sensorineural, 404

sporadic, TMPRSS3 mutation, 413–414

testing, 457–458

TMPRSS3 mutation, 412–414 Deafness DFNB8, chromosome 21,

403–404

Deafness DFNB10, chromosome 21, 403–404

Deafness DFNB29, autosomal recessive, claudin 14 mutations, 381–382

Decibels hearing level (dBHL), 34 Denmark, 52

DFN3, clinical phenotype, 275–276 DFNA1

genetics, 351–357 hearing loss, 351–354

molecular mechanisms, 364–366 mutation, 354–355 nonsyndromic, 364–366

DFNA5, 321–327 candidate region, 325 clinical features, 321–323 functional considerations,

325–327

genomic structure, 326 localization and identification,

324–325 DFNA10, mutations, 315

DFNA13, audiometric analysis, 261–262

Index

DFNA15

autosomal dominant deafness, Pou4f3 mutations, 279–283

clinical phenotype, 281–282 DFNA9 families, vs. COCH

(coagulation factor C homology), 339–341

DFNA10 families

mutation screening, 312–313 pedigrees, 308

DFNA17 family, 170, 171 pedigree, 168

DFNA13 gene

localization, mutation analysis, 258–259

pedigree, 259

DFNA2 hearing loss, KCNQ4 mutations, 240

DFNA10 hearing loss nonsyndromic, 318–319 postlingual, 318

DFNA2 locus, 239–241 DFNA10 phenotype

age, 309

age-related audiograms, 311 audiometric analysis, 309 cross-sectional threshold-on-age

data, 310 DFNB1, 209

DFNB8, TMPRSS3 mutation, 408 DFNB10, TMPRSS3 mutation,

404–408 DFNB12, 393

positional cloning, 394 DFNB29, 381

autosomal recessive deafness, claudin 14 mutations, 381–382

DFNB2 gene, 67 DFNB4 gene, 76 DFNM2, 458

DFN3 X-linked mixed deafness, Pou3f4mutations, 275–277

Diaphanous

cellular signal transduction, 363–364 C-terminus loss, 364

Index

[Diaphanous] cytokinesis, 361–362

Drosophila, 351–366 function, 358–364 microtubules, 362–363

Diaphanous interacting protein (DIP), 363

Diaphanous proteins, 355–358 DiGeorge syndrome, 133 DIP, 363

Distortion product otoacoustic emissions (DPOAE), 169

Down syndrome, 52 DPOAE, 169

Drosophila, 17, 224, 225, 234, 273 diaphanous, 351–366

myosin VI, 226–227, 234

Drosophila hairy, 437 Drosophila melanogaster, 189 Dutch family, 260, 261

age-related audiograms (ARTA), 262 COCH (coagulation factor C

homology) mutations, 338–339 pedigree, 259

Dutch family 1, 249

Dutch family 2, 249–250, 250 Dutch family 4, 250 Dystopia, 102

Dystopia canthorum, 99 W index, 100

Ear

development, schematic, 9 functional development, 14–16 molecular development, 16–21 morphogenesis, 18

normal development, 1–24 pendrin function, 77–78

ECHOS1, 404 EDN3 mutations, 105

identification, 106–107 EDNRB mutations, 105 EEC, 52

EKV, 214–215 Electrocardiogram, 46

475

Embryo blastoderm, 234 Embryonic neural crest, 98 Endolymphatic duct, 77 England, 118

deafness prevalence, 457

Enhancer-of-split, 437

Enlargement of vestibular aqueducts (EVA), 87, 88, 89

ERA, 40

Erythrokeratodermia variabilis (EKV), 214–215

Escherichia coli, 57 Estonia, 52 Etiology, 55–58

changes, 56

Eukaryotic gene expression, 270 European, 209

European Economic Community (EEC), 52

Eustachian tube, development, 5 EVA, 87, 88, 89

Evoked response audiometry (ERA), 40

External auditory canal, formation, 3 External ear

anatomical development, 3–4 morphological development, 4

EYA4

alternative splicing, 315–316 candidate gene, 312 cloning, 309–313

exon 12, 312

gene expression, 316–318 inner ear, 317–318 linkage mapping, 309–312

EYA1 genes, 142, 143–144, 144–146 EYA2 genes, 142

EYA3 genes, 142 EYA4 genes, 307–319

families, 307–309

EYA protein, structure and function, 313–316

Familial mutations, TMPRSS3, 412–413

476

Fence function, 375 FGF, 17, 441–442

Fibroblast growth factor (FGF), 17, 441–442

Finnish population, 70 Fishes, hair cell, 430 Fletcher index, 36–37 Fragile infant, 56–57 French Acadians, 69 French family, 247–249 Frog, myosin VI, 232 Functional genetics, 199 Fundoscopy, 46

GATA3

hair cell di erentiation, 439–440

HDR syndrome, 135–136 GATA-binding family, 133 Genes

deafness, 458

hair cell, development and regeneration, 434–435

hair cell regeneration, 432–443 nonsyndromic hearing loss,

199–204

nuclear modifier genes identification, 189

Genetic counselor, 465 Genetic examination, 41–43 Geneticist, clinical, 465 Genetic testing, 455–466

future, 466

pitfalls and problems, 460–463 public, 463–465

reasons, 456 Genotype-phenotype correlation,

KCNQ4 gene, 250–251 GHB2 mutations, 210

GJB3 mutations, 211

Glycine max, 293 Goiter, 89

Pendred syndrome, 83–84 Goldenhar’s syndrome, 50 Great Britain, 52

Index

Growth factors

hair cell development and regeneration, 435

hair cell regeneration, 441–443 Guinea pig, myosin VI, 232

Haemophilus influenzae, 57, 58 Hair cells, 9, 10, 12

apical end, 365 development, genes, 434–435 di erentiation, 429–444

bHLH transcription factors, 437–438

GATA3, 439–440

myosin superfamily, 440–441 retinoid signaling, 438–439 SOX 10, 440

transcription factors, 433–440 inner, 13

myosin VI mutations, 233–234 nonmammalian vertebrates, 430–431 outer, 13

production, 430–432 progenitors, 430–432 regeneration, 429–444

bHLH transcription factors, 437–438

GATA3, 439–440 genes, 432–443, 434–435 growth factors, 441–443

myosin superfamily, 440–441 notch signaling pathway, 432–433 retinoid signaling, 438–439

SOX 10, 440

transcription factors, 433–440 HDR syndrome, 133–136

clinical characteristics, 135 clinical data, 134

GATA3 expression, 135–136 Hearing impairment

classification by etiology, 51 developing countries, epidemiology

and etiology, 58–59 grades, 37

mitochondrial mutations, 180–186

478

[Jervell and Lange-Nielsen syndrome] clinical management and genetic

counseling, 126–128 diagnostic criteria, 120 genetic epidemiology, 123

histopathological and functional aspects, 123–124

KCNQ1 mutations, 119 molecular genetics, 121–122 mutations spectrum, 122–123 prevalence, 118–120 Scandinavian panorama, 123

Jewish Ashkenazi children, 43

Joint Committee of Infant Screening, 54 Junction adhesion molecule (JAM), 376

K+-channel gene KCNQ4, 239–241 KCNE1 gene, 121–122, 126 KCNE2 gene, 121–122

KCNE1 mutations, clinical implications, 124–126

KCNH2 gene, 121–122 KCNQ5, 245

KCNQ1 gene, 121–122, 126, 244 KCNQ2 gene, 244–245 KCNQ3 gene, 244–245 KCNQ4 gene, 241–247

age-related audiograms, 248 function, 243–244

genomic structure, 245 genotype-phenotype correlation,

250–251

isolation and localization, 241 structure, 241

tissue expression, 241–243 KCNQ4 homologs, 244–245 KCNQ1 mutations

clinical implications, 124–126 Jervell and Lange-Nielsen syndrome,

119

KCNQ4 mutations, 245–247 DFNA2 hearing loss, 240 hearing loss, 247–250

clinical features, 247 Kearns-Sayre syndrome, 181

Index

Kidneys, pendrin function, 77 Klein-Waardenburg syndrome, 104 KVLQT1 gene, 121–122

Labyrinthine capsule, 8 Labyrinthus ossificans, 57 LFHL, 353

Linkage mapping, EYA4, 309–312 Loci, nonsyndromic hearing loss,

201–203

Long Q-T syndrome, 46, 117, 244 Low birth weight, 54 Low-frequency hearing loss (LFHL),

353

L236P mutation, 79 LQT4 gene, 121–122

Malleus, development, 5, 8 Mammalian cochlea, 431 Mammalian inner ear, 431–432 MAPK, 442

Mash-1 gene, 437 Masking, 36

pure tone audiometry, 36 Math1, 19

Math1 gene, 437

Medical ectodermal plate, 3 Melanocytes, 12, 98–99 MELAS, 181

Meningitis, 57–58 MERRF, 181

Mice, myosin VI, 234 Microtubules, diaphanous, 362–363 Middle ear

anatomical development, 5–8 cavity, 5, 7

lumen, development, 6 morphological development, 7

Mink gene, 121–122 MiRP1 gene, 121–122 MITF mutations, 104, 107

identification, 106 Mitochondrial encephalomyopathy

lactic acidosis and strokelike episodes (MELAS), 181

Index

Mitochondrial encephalomyopathy with ragged red fibers (MERRF), 181

Mitochondrial genetics, 180 Mitochondrial hearing loss, 179–191 Mitochondrial mutations

hearing impairment, 180–186 clinical relevance, 186–187

nonsyndromic hearing loss, 182–184 ototoxic hearing loss, 184–185 pathophysiology, 187–189

experimental approaches, 189–190 presbycusis, 185–186

syndromic hearing loss, 181–182 Mitogen-activated protein kinase

pathway (MAPK), 442 Mixed hearing loss, 35–36 Mondini deformity, 87, 89 Mouse

auditory function, development, 16 ear

functional development, 15–16 normal development, 1–24

external ear, development, 4–5 inner ear, anatomical development,

10–14

middle ear, anatomical development, 7–8

myosin VI, 227–228

notch family receptors and ligands, 436

Mouse models cadherin 23, 396–397

nuclear modifier genes identification, 190

Pou3f4 mutations, 277–278 pou4f3 mutations, 283–285

MTCP, 174–175 Murine otic placode, 10

Mutation analysis, DFNA13 gene localization, 258–259

MY06 gene, 229, 230 MY074 gene, 66

MYH9, 167–176, 170–172, 172–174 audiological findings, 167–169

479

MYH10, 171

MYO7A, 458

Myosin, 170–172, 224–225 hair cell development and

regeneration, 435 Myosin superfamily, hair cell

di erentiation, 440–441 Myosin VI, 223–235, 225–226, 228–231

C. elegans, 226–227, 234

Drosophila, 226–227, 234 expression, 232–233 frog, 232

guinea pig, 232 hearing loss, 229–231 inner ear, 231–234 mice, 234

mouse, 227–228 protein, 228–229

three-dimensional model, 231 Myosin VI C442, 230

Myosin VI mutations, 228 animal models, 226–227 hair cell, 233–234

Myosin VI protein, 225

Neonatal intensive care units (NICU), hearing impairment, 52

NeuroD, 437

NICU, hearing impairment, 52 Nonmammalian vertebrates, hair cell,

430–431

Nonsyndromic autosomal recessive deafness (NRD), connexins, 209–213

Nonsyndromic deafness, 404 cadherin 23, 397

Nonsyndromic hearing loss autosomal dominant loci and genes,

201

autosomal recessive loci and genes, 202

gene localization and isolation, 199–204

genes, 203, 204 loci, 201–203

480

[Nonsyndromic hearing loss] mitochondrial mutations, 182–184 TECTA mutations, 301

X-linked recessive loci and genes, 202

Norway, 126

Notch/Delta signaling pathway, 17 Notch family receptors and ligands, expression patterns, 436

Notch signaling pathway hair cell development and

regeneration, 434

hair cell regeneration, 432–433 NRD, connexins, 209–213

Nuclear modifier genes, identification, 189–190

OAV spectrum, 155 Occludin, 376–377 Oculoauriculovertebral (OAV)

spectrum, 155 Ophthalmological examination, 46 Organ of Corti, 8, 242–243, 431, 432

scanning electron microscopy, 284 Ossicles, 7

Otoacoustic emissions, 40–41 Otoconial membrane, 291 Otocysts, 9

development and patterning, 18 Otosclerosis, 419–425

clinical significance, 419–420 complex forms, 424–425 genetics, 421

mammogenic forms, 423–424 Monogesic and complex diseases,

422–425

viral etiology, 420–421 Ototoxic drugs, 59

Ototoxic hearing loss, mitochondrial mutations, 184–185

Outer hair cells, 13

Pakistani family, 404, 408, 412 Palmoplantar keratoderma, autosomal

dominant, 216

Index

PAX3 mutations, 104, 107, 109 identification, 106

PCDH15 gene, 68 PCHI, 50

Pds knockout mouse, 78–79 PDS mutations, 79–82, 80–81 PDS/SLC26A4 gene, 76 Pendred syndrome, 41, 43, 75–90

diagnosis and management, 89–90 etiology, 76

gene, 43, 460

history and epidemiology, 75 inner ear anatomy, 87–89 otological phenotype, 82–83 pendrin function, 76–78 perchlorate test, 84–85 phenotypic variability, 85–87

Perchlorate test, Pendred syndrome, 84–85

Perinatal causes, 56–57 Peripheral neuropathy, 216 Permanent childhood hearing

impairments (PCHI), 50 Phosphatidylinositol 3-kinase (P13-K),

442 Pillar cells, 9 P13-K, 442 PKC, 442–443 PND, 463, 465

Positional cloning, 199 DFNB12, 394 TMPRSS3 gene, 404–408

Pou-domain gene transcription factors, class IV, 278–285

Pou-domain transcription factors, 269– 286, 273, 433–437

class III, 273–278 Pou3F4

antibodies, immunohistochemistry, 280

computed tomography, 276 immunohistochemical analysis, 274 knockout mice, cochlear hypoplasia,

278 mutations, 282

Index

[Pou3F4]

DFNA15 autosomal dominant deafness, 279–283

DFN3 X-linked mixed deafness, 275–277

mouse models, 277–278, 283–285 Pou family, transcription factors,

272–285 Prematurity, 56–57

Prenatal diagnosis (PND), 463, 465 Presbycusis, mitochondrial mutations,

185–186 Prevalence, 51–54

defined, 51

Progressive hearing loss, Italians, 229

Protein, myosin VI, 228–229 Protein kinase C (PKC), 442–443 Proteinuria, 47

PTA, 36–37

Public, genetic testing, 463–465 Pure tone audiometry, 34–40

feasibility, 37 masking, 36 technique, 34–35

Pure tone average (PTA), 36–37 Pure tone threshold, 168

Rat, notch family receptors and ligands, 436

Reissner’s membrane, 12

Renal system, ultrasound examination, 46

Retinitis pigmentosa. see Usher syndrome

Retinoid signaling, 438–439 Risk factors, 54

ROCK, 363

Romano-Ward syndrome, 117, 244 Rubella, 59

Rubella syndrome, congenital, 43–45 RyR2 gene, 121–122

Satellite insertion, 407

Scala tympani, 383

481

Scala vestibuli, 383 SCN5A gene, 121–122

Second-messenger pathways, 442–443 Semicircular canals, 10 Sensorineural deafness, 404 Sensorineural hearing loss (SNHL),

35–36, 56, 351 congenital

American family, 261 MRI, 45

Sensory epithelium cochlea, 8 formation, 19

Serological examination, 43–45 Serous otitis media, 55

Serum response factor (SRF), 363 Shah-Waardenburg syndrome, 104,

271 Shh, 17

Short sequence repeat (SSR) polymorphic markers, 404

SIDS, 117

Single-strand conformational polymorphism (SSCP), 258

Snell’s waltzer mouse, 440

SNHL. see Sensorineural hearing loss (SNHL)

Sonic hedgehog (Shh), 17 SOX 10

hair cell di erentiation, 440 mutations, 105, 107, 110

identification, 107 Spanish pedigree, 188 Spiral ganglion, 10, 13

Sporadic deafness, TMPRSS3 mutation, 413–414

SRF, 363

SSCP, 258

SSR polymorphic markers, 404 Stapes, development, 5 Statoacoustic ganglion, 13 Stereocilia, 233

Steroid/thyroid receptor family, 438 Stickler syndrome, COL11A2, 462

Streptococcus pneumoniae, 57

Index

Type 1 Waardenburg syndrome (WS1), 97, 99–103

hearing loss, 102 penetrance, 102

phenotypes and genotypes, 105 Type 2 Waardenburg syndrome (WS2),

99 penetrance, 102

phenotypes and genotypes, 105 Type 3 Waardenburg syndrome,

phenotypes and genotypes, 105 Type 4 Waardenburg syndrome,

phenotypes and genotypes, 105

Unilateral hearing loss, 58 United Kingdom, 52 Urine, examination, 47 US family 1, 249

US family 2, 250 USH2A gene, 69 USH1C gene, 69 USH1D, 393

Usher syndrome, 43, 65–71, 393, 458, 459

Usher type Ib, 66–67 Usher type Ic, 69 Usher type Id, 67–68 Usher type If, 68 Usher type IIa, 69 Usher type III, 70 USH3 gene, 70

Ventricular tachycardia, 121–122 Very low birth weight babies (VLBW),

56

Vestibular and progressive retinal dysfunction, 397

VLBW, 56

Vohwinkel syndrome, 215

Waardenburg-Hirschsprung syndrome, 104

Waardenburg-Shah syndrome, 440

483

Waardenburg syndrome, 97–111 clinical findings, 99–104 developmental basis, 98–99 diagnostic criteria, 100

gene classification, 105–107 genetics, 104–105

molecular pathology, 107–109 mutational spectrum, 109–110 type 1, 97, 99–103

type 2, 99, 102, 105 type 3, 105

type 4, 105 Wales, 52, 118

White central forelock, 103 WHO, 49–50, 51

W index, 101

dystopia canthorum, 100

World Health Organization (WHO), 49–50, 51

WS1, 97, 99–103 hearing loss, 102 penetrance, 102

phenotypes and genotypes, 105 WS2, 99

penetrance, 102

phenotypes and genotypes, 105 WS3 (Klein-Waardenburg syndrome),

104

Xenopus laevis, 273

Xenopus oocyte expression, 86 X-linked Alport syndrome, 43 X-linked DFN3, 276

X-linked recessive loci and genes nonsyndromic hearing loss, 202

Yeast, 187

Y100X gene, 70

Zebrafish, notch family receptors and ligands, 436

Zonula occludens (ZO). see Tight junctions