The molecular genetics of Usher syndrome

Clinical Genetics - Tập 63 Số 6 - Trang 431-444 - 2003
ZM Ahmed1,2, Sheikh Riazuddin1, Sheikh Riazuddin2, E.R. Wilcox1,2
1Laboratory of Molecular Genetics, Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
2National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

Tóm tắt

Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three different clinical subtypes. Genes identified for the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding SANS). Transcripts from all these genes are found in many tissues/cell types other than the inner ear and retina, but all are uniquely critical for retinal and cochlear cell function. Many of these protein products have been demonstrated to have direct interactions with each other and perform an essential role in stereocilia homeostasis.

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Tài liệu tham khảo

10.1016/S0165-5876(00)00395-5

10.1136/adc.73.1.53

10.1111/j.1442-9071.1988.tb01211.x

VonGraefe A, 1858, Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut, Archiv für Ophthalmologie, 4, 250

10.1288/00005537-196605000-00004

10.1111/j.1399-0004.1997.tb02480.x

10.1016/0021-9681(83)90147-9

10.1111/j.1755-3768.1992.tb02109.x

10.1136/bjo.81.1.46

Boughman JA, 1980, Population genetic studies of retinitis pigmentosa, Am J Hum Genet, 32, 223

10.1046/j.1395-3907.2002.00001.x

10.1136/bmj.323.7312.536

10.3109/14992020209077181

10.1002/ajmg.1320460504

10.1002/ajmg.1320500107

10.1034/j.1600-0420.2002.800215.x

10.1001/archotol.125.4.441

10.1093/hmg/4.1.93

10.1097/00005537-200101000-00014

10.1016/0888-7543(90)90546-7

10.1016/0888-7543(90)90547-8

10.1016/S0888-7543(05)80121-1

10.1016/S0888-7543(05)80122-3

Keats BJ, 1994, Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11, Am J Hum Genet, 54, 681

10.1016/S0959-4388(00)00120-3

10.1093/hmg/5.10.1689

Wayne S, 1997, Localization of the Usher syndrome type IF (Ush1F) to chromosome 10, Am J Hum Genet, 61, 1752

10.1007/s00439-002-0690-x

10.1038/sj.ejhg.5200307

10.1038/374060a0

10.1038/79178

10.1038/79171

10.1038/83667

10.1086/316954

10.1086/321277

10.1093/hmg/10.16.1709

10.1093/hmg/ddg051

10.1126/science.280.5370.1753

10.1086/323610

10.1038/sj.ejhg.5200831

10.1086/342098

Hereditary Hearing Loss Homepage.http://dnalab‐www.uia.ac.be/dnalab/hhh/.

10.1093/hmg/5.7.1061

10.1006/geno.1998.5320

10.1101/gr.5.3.305

10.1086/302926

10.1086/341558

10.1038/ng1197-268

10.1086/302026

10.1086/316889

10.1093/hmg/3.6.989

10.1002/ajmg.1335

10.1002/ajmg.10384

10.1093/hmg/5.6.849

10.1111/j.1749-6632.1991.tb19578.x

10.1038/374062a0

10.1038/ng0697-188

10.1038/ng0697-191

10.1002/(SICI)1096-8628(19990924)89:3<147::AID-AJMG5>3.0.CO;2-6

Weston MD, 1996, Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients, Am J Hum Genet, 59, 1074

10.1126/science.279.5350.527

10.1086/514899

10.1006/geno.1996.0489

10.1146/annurev.genom.2.1.271

10.1042/bse0350159

10.1016/S0167-4781(99)00033-0

10.1007/s00439-002-0732-4

10.1007/s00439-002-0736-0

10.1093/emboj/cdf689

10.1146/annurev.neuro.24.1.1

10.1016/S0955-0674(99)80062-3

10.1172/JCI6509

10.1073/pnas.232579599

10.1038/83660

10.1016/S0378-5955(97)00155-X

10.1006/geno.1997.4869

10.1006/geno.2001.6538

10.1126/science.1071559

10.1038/83837

10.1016/S0925-4773(01)00388-4

10.1016/S0378-5955(00)00233-1

10.1093/hmg/ddg042

10.1006/geno.1996.0325

Kimberling WJ, 1995, Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1‐cM segment on chromosome 1q41, Am J Hum Genet, 56, 216

10.1086/302855

10.1016/S0378-5955(01)00344-6

10.1086/321269

10.1086/302332

10.1006/geno.1996.0626

10.1006/geno.1999.6096

10.1086/302438

Espinos C, 1998, Investigacion genetica sobre el sindrome de Usher en Espana. [Genetic research on Usher's syndrome in Spain], Med Clin (Barc), 110, 340

10.1136/jmg.35.8.666

Fields RR, 2003, Localization and developmental expression of the protein encoded for by the Usher syndrome III gene, Assoc Res Otolaryngol, 1047

10.1016/S0888-7543(05)80120-X

10.1093/hmg/6.1.27

10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y

10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U

10.1006/exer.2000.0863

Mena A, 2000, New mutations in myosin VIIa gene in the Portuguese population, Am J Hum Genet, 67, 2263

Weston MD, 1998, Spectrum of myosin VIIA mutations causing Usher syndrome type 1b, Assoc Res Otolaryngol, 181

10.1093/hmg/6.1.111

10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3

10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O

De Brouwer AP, 2003, Mutations in the calcium‐binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family, Hum Genet, 112, 156, 10.1007/s00439-002-0833-0

10.1002/humu.10049

10.1038/sj.ejhg.5200491

10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N

10.1006/exer.2000.0978

10.1136/jmg.37.4.256

10.1056/NEJMoa021502

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Clinical Genetics

Tập 63 Số 6

431-444

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