Molecular genetic study of Usher syndrome in Spain

被引：0
|
作者：
Jaijo, T. [1 ]
Aller, E. [1 ,2 ]
Beneyto, M. [1 ]
Najera, C. [2 ]
Millan, J. M. [1 ]
机构：
[1] Hosp Univ La Fe, Unidad Genet, Avda Campanar 21, Valencia 46009, Spain
[2] Univ Valencia, Dept Genet, Valencia, Spain
来源：
ACTA OTORRINOLARINGOLOGICA ESPANOLA | 2005年 / 56卷 / 07期
关键词：
Usher syndrome; Retinitis pigmentosa; Vestibular arreflexia; Molecular characterization;
D O I：
10.1016/S0001-6519(05)78616-7
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.
引用
收藏
页码：285 / 289
页数：5
相关论文
共 50 条
  • [41] COST ANALYSIS OF THE MOLECULAR SCREENING AND GENETIC DIAGNOSIS OF LYNCH SYNDROME IN CATALONIA (SPAIN)
    Corral, J.
    Pineda, M.
    Jimenez, C.
    Gonzalez, S.
    Navarro, M.
    Brunet, J.
    Lazaro, C.
    Capella, G.
    VALUE IN HEALTH, 2016, 19 (07) : A614 - A614
  • [42] Comprehensive Molecular Screening in a Large Chinese Cohort with Usher Syndrome
    Sun, Tengyang
    Xu, Ke
    Zhang, Xiaohui
    Li, Yang
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [43] Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care
    Colbert, Brett M.
    Smeal, Molly
    Cromar, Zachary J.
    Rosa, Potyra
    Blanton, Susan H.
    Lam, Byron L.
    Liu, Xue Z.
    LARYNGOSCOPE, 2024,
  • [44] Targeted next generation sequencing for molecular diagnosis of Usher syndrome
    María J Aparisi
    Elena Aller
    Carla Fuster-García
    Gema García-García
    Regina Rodrigo
    Rafael P Vázquez-Manrique
    Fiona Blanco-Kelly
    Carmen Ayuso
    Anne-Françoise Roux
    Teresa Jaijo
    José M Millán
    Orphanet Journal of Rare Diseases, 9
  • [45] Genetic heterogeneity underlying hearing loss and Usher syndrome in Saudi population
    Ramzan, K.
    Imtiaz, F.
    Al-Owain, M.
    Alhazzaa, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 192 - 192
  • [46] Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I
    Zhou, Qi
    Lenger, Chaeli
    Smith, Richard
    Kimberling, William J.
    Ye, Ming
    Lehmann, Ordan
    MacDonald, Ian
    MOLECULAR VISION, 2012, 18 (142-45): : 1379 - 1383
  • [47] GENETIC-LINKAGE STUDIES IN USHER SYNDROME TYPE-3
    SANKILA, EM
    PAKARINEN, L
    SIMOLA, KOJ
    KAARIAINEN, H
    DELACHAPELLE, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1712 - 1712
  • [48] Genetics of Usher syndrome
    Bolz, H. J.
    OPHTHALMOLOGE, 2009, 106 (06): : 496 - 504
  • [49] Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis
    Lenarduzzi, S.
    Vozzi, D.
    Morgan, A.
    Rubinato, E.
    D'Eustacchio, A.
    Osland, T. M.
    Rossi, C.
    Graziano, C.
    Castorina, P.
    Ambrosetti, U.
    Morgutti, M.
    Girotto, G.
    HEARING RESEARCH, 2015, 320 : 18 - 23
  • [50] Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome
    Keogh, IJ
    Godinho, RN
    Wu, TP
    de Palacios, AMD
    Palacios, N
    de Alford, MB
    De Almada, MI
    MarPalacios, N
    Vazquez, A
    Mattei, R
    Seidman, C
    Seidman, J
    Eavey, RD
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2004, 68 (08) : 1063 - 1068
12345