Genetic analysis of a four generation Indian family with Usher syndrome: A novel insertion mutation in MYO7A

Molecular Vision

Volumn 10, Issue , 2004, Pages 910-916

  Kumar, Arun ^a   Babu, Mohan ^a   Kimberling, William J ^b   Venkatesh, Conjeevaram P ^c  

^a INDIAN INSTITUTE OF SCIENCE   (India)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^c Minto Ophthalmic Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MYOSIN; MYOSIN VIIA; UNCLASSIFIED DRUG; DYNEIN ADENOSINE TRIPHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INDIA; MICROSATELLITE MARKER; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; USHER SYNDROME; VESTIBULAR DISORDER; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; ETHNOLOGY; FEMALE; GENETICS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; SYNDROME;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DYNEIN ATPASE; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; SYNDROME; VESTIBULAR DISEASES;

EID: 22044457437     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (52)

1. Usher CH. On the inheritance of retinitis pigmentosa, with notes of cases. R Lond Ophthalmol Hosp Rep 1914; 19:130-236.
2. Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994; 50:32-8.
3. Grondahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987; 31:255-64.
4. Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983; 36:595-603.
5. Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet 2000; 67:1569-74.
6. Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frezal J, Munnich A. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992; 14:979-87.
7. Kimberling WJ, Moller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower AM, Hoover DM, Rowland P, Smith RJH. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 1992; 14:988-94.
8. Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 1992; 14:995-1002.
9. Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Localization of the Usher syndrome type 1D gene (Ush1D) to chromosome 10. Hum Mol Genet 1996; 5:1689-92.
10. Chaib H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997; 6:27-31.
11. Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH. Localization of the Usher syndrome type 1F to chromosome 10. Am J Hum Genet 1997; 61:A300.
12. Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Megarbane A, Loiselet J, Lathrop M, Petit C, Weil D. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet 2002; 110:348-50.
13. Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 1997; 61:813-21.
14. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374:60-1.
15. Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 1998; 63:909-12.
16. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26:51-5.
17. Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001; 27:108-12.
18. Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ, Hagemen GS. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001; 10:1709-18. Erratum in: Hum Mol Genet 2001; 10:2603.
19. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003; 12:463-71.
20. Kimberling WJ, Weston MD, Moller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ. Localization of Usher syndrome type II to chromosome 1q. Genomics 1990; 7:245-9.
21. Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, Chaabouni M, Petit C, Ayadi H. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet 1999; 7:363-7.
22. Pieke-Dahl S, Moller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, Kimberling WJ. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J Med Genet 2000; 37:256-62.
23. Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ, Greenburg J. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000; 66:1199-210. Erratum in: Am J Hum Genet 2000; 66:2020.
24. Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004; 74:357-66. Erratum in: Am J Hum Genet. 2004; 74:1080.
25. Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995; 4:93-8.
26. Joensuu T, Hamalainen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001; 69:673-84. Erratum in: Am J Hum Genet 2001; 69:1160.
27. Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 1996; 59:1074-83.
28. Levy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997; 6:111-6.
29. Liu XZ, Newton VE, Steel KP, Brown SD. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum Mutat 1997; 10:168-70.
30. Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat 1999; 13:133-40.
31. Cuevas JM, Espinos C, Millan JM, Sanchez F, Trujillo MJ, Ayuso C, Beneyto M, Najera C. Identification of three novel mutations in the MYO7A gene. Hum Mutat 1999; 14:181.
32. Cuevas JM, Espinos C, Millan JM, Sanchez F, Trujillo MJ, Garcia-Sandoval B, Ayuso C, Najera C, Beneyto M. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. Mol Cell Probes 1998; 12:417-20.
33. Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res 2000; 71:173-81.
34. Espinos C, Millan JM, Sanchez F, Beneyto M, Najera C. Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome. Hum Genet 1998; 102:691-4.
35. Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan JM, Ayuso C. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat 2002; 20:76-7.
36. Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR. Mutation analysis of the TSC2 gene in an African-American family. Hum Mol Genet 1995; 4:2295-8.
37. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16:191-3.
38. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16:188-90.
39. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997; 17:268-9.
40. Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat 2004; 24:274-5.
41. Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004; 115:149-56.
42. Street VA, Kallman JC, Kiemele KL. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. J Med Genet 2004; 41:e62.
43. Fairbrother WG, Yeo GW, Yeh R, Goldstein P, Mawson M, Sharp PA, Burge CB. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Res 2004; 32:W187-90.
44. Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A 1995; 92:9815-9.
45. Oliver TN, Berg JS, Cheney RE. Tails of unconventional myosins. Cell Mol Life Sci 1999; 56:243-57.
46. Todorov PT, Hardisty RE, Brown SD. Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B). Biochem J 2001; 354:267-74.
47. Kussel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, Cossart P, Wolfrum U, Petit C. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J 2000; 19:6020-9.
48. Kussel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C. Unconventional myosin VIIA is a novel A-kinase-anchoring protein. J Biol Chem 2000; 275:29654-9.
49. Velichkova M, Guttman J, Warren C, Eng L, Kline K, Vogl AW, Hasson T. A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions. Cell Motil Cytoskeleton 2002; 51:147-64.
50. El-Amraoui A, Schonn JS, Kussel-Andermann P, Blanchard S, Desnos C, Henry JP, Wolfrum U, Darchen F, Petit C. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep 2002; 3:463-70.
51. Boeda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 2002; 21:6689-99.
52. Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ Jr, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci 1998; 23:281-2.