Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II

Molecular Vision

Volumn 14, Issue , 2008, Pages 2067-2075

  Dai, Hanjun ^a   Zhang, Xiaohui ^a   Zhao, Xin ^a   Deng, Ting ^a   Dong, Bing ^a   Wang, Jingzhao ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MYOSIN VIIA; SINGLE STRANDED DNA;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA POLYMORPHISM; ELECTRORETINOGRAM; EXON; EYE FUNDUS; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; ONSET AGE; OPHTHALMOSCOPY; OPTIC DISK; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SEQUENCE ANALYSIS; USHER SYNDROME; VASOCONSTRICTION; VASODILATATION; VESTIBULAR FUNCTION;

ADOLESCENT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN ISOFORMS; SEQUENCE ALIGNMENT; USHER SYNDROMES;

EID: 56849093875     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Keats BJ, Corey DP. The usher syndromes. Am J Med Genet 1999; 89:158-66.
2. Smith RJ, Berlin CI, Hejtmancik JF, Keays 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. Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006; 15:R262-70.
4. Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007; 121:203-11.
5. Ahmed Z, Riazuddin S, Khan S, Friedman P, Riazuddin S, Friedman T. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2008
6. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998; 280:1753-7.
7. van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004; 74:738-44.
8. Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 2006; 83:97-119.
9. Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 2005; 14:3921-32.
10. Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 2008; 17:71-86.
11. 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. 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.
12. Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, Bundey S, Nance W, Steel KP, Brown SD. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999; 64:1221-5.
13. Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet 2003; 40:e8.
14. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999; 96:307-10.
15. Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res 2004; 79:167-73.
16. Kaiserman N, Obolensky A, Banin E, Sharon D. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol 2007; 125:219-24.
17. Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet 2006; 43:e55.
18. Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 2007; 28:781-9.
19. Bernal S, Medà C, Solans T, Ayuso C, Garcia-Sandoval B, Valverde D, Del Rio E, Baiget M. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation. Clin Genet 2005; 68:204-14.
20. Dreyer B, Brox V, Tranebjærg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat 2008; 29:451.
21. Dreyer B, Tranebjærg L, Brox B. Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Nilssen O. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 2001; 69:228-34.