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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Hum Genet. 2005 Mar; 116(4):292-9.HG

Abstract

Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. At least seven USH1 loci, USH1A-G, have been mapped to the chromosome regions 14q32, 11q13.5, 11p15, 10q21-q22, 21q21, 10q21-q22, and 17q24-25, respectively. Mutations in five genes, including MYO7A, USH1C, CDH23, PCDH15 and SANS, have been shown to be the cause of Usher syndrome type 1B, type 1C, type 1D, type 1F and type 1G, respectively. In the present study, we carried out a systematic mutation screening of these genes in USH1 patients from USA and from UK. We identified a total of 27 different mutations; of these, 19 are novel, including nine missense, two nonsense, four deletions, one insertion and three splicing defects. Approximatelly 35-39% of the observed mutations involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G. Two of the 12 MYO7A mutations, R666X and IVS40-1G > T accounted for 38% of the mutations at that locus. A 193delC mutation accounted for 26% of CDH23 (USH1D) mutations, confirming its high frequency. The most common PCDH15 (USH1F) mutation in this study, 5601-5603delAAC, accounts for 33% of mutant alleles. Interestingly, a novel SANS mutation, W38X, was observed only in the USA cohort. The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.

Authors+Show Affiliations

Department of Otolaryngology (D-48), University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15660226

Citation

Ouyang, Xiao Mei, et al. "Characterization of Usher Syndrome Type I Gene Mutations in an Usher Syndrome Patient Population." Human Genetics, vol. 116, no. 4, 2005, pp. 292-9.
Ouyang XM, Yan D, Du LL, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116(4):292-9.
Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D., Balkany, T., & Liu, X. Z. (2005). Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Human Genetics, 116(4), 292-9.
Ouyang XM, et al. Characterization of Usher Syndrome Type I Gene Mutations in an Usher Syndrome Patient Population. Hum Genet. 2005;116(4):292-9. PubMed PMID: 15660226.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. AU - Ouyang,Xiao Mei, AU - Yan,Denise, AU - Du,Li Lin, AU - Hejtmancik,J Fielding, AU - Jacobson,Samuel G, AU - Nance,Walter E, AU - Li,An Ren, AU - Angeli,Simon, AU - Kaiser,Muriel, AU - Newton,Valerie, AU - Brown,Steve D M, AU - Balkany,Thomas, AU - Liu,Xue Zhong, Y1 - 2005/01/20/ PY - 2004/08/10/received PY - 2004/11/07/accepted PY - 2005/1/22/pubmed PY - 2005/4/19/medline PY - 2005/1/22/entrez SP - 292 EP - 9 JF - Human genetics JO - Hum Genet VL - 116 IS - 4 N2 - Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. At least seven USH1 loci, USH1A-G, have been mapped to the chromosome regions 14q32, 11q13.5, 11p15, 10q21-q22, 21q21, 10q21-q22, and 17q24-25, respectively. Mutations in five genes, including MYO7A, USH1C, CDH23, PCDH15 and SANS, have been shown to be the cause of Usher syndrome type 1B, type 1C, type 1D, type 1F and type 1G, respectively. In the present study, we carried out a systematic mutation screening of these genes in USH1 patients from USA and from UK. We identified a total of 27 different mutations; of these, 19 are novel, including nine missense, two nonsense, four deletions, one insertion and three splicing defects. Approximatelly 35-39% of the observed mutations involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G. Two of the 12 MYO7A mutations, R666X and IVS40-1G > T accounted for 38% of the mutations at that locus. A 193delC mutation accounted for 26% of CDH23 (USH1D) mutations, confirming its high frequency. The most common PCDH15 (USH1F) mutation in this study, 5601-5603delAAC, accounts for 33% of mutant alleles. Interestingly, a novel SANS mutation, W38X, was observed only in the USA cohort. The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes. SN - 0340-6717 UR - https://wwww.unboundmedicine.com/medline/citation/15660226/Characterization_of_Usher_syndrome_type_I_gene_mutations_in_an_Usher_syndrome_patient_population_ L2 - https://dx.doi.org/10.1007/s00439-004-1227-2 DB - PRIME DP - Unbound Medicine ER -