García-García Gema, Aparisi María J, Rodrigo Regina, Sequedo María D, Espinós Carmen, Rosell Jordi, Olea José L, Mendívil M Paz, Ramos-Arroyo María A, Ayuso Carmen, Jaijo Teresa, Aller Elena, Millán José M
Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS - La Fe, Valencia, Spain.
Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29.
To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene.
DNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific for the USH3A locus. Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene.
Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. After CLRN1 sequencing, we found two novel mutations, p.R207X and p.I168N. Both novel mutations segregated with the phenotype.
To date, 18 mutations in CLRN1 have been reported. In this work, we report two novel mutations and a third one previously identified in the Spanish USH sample. The prevalence of CLRN1 among our patients with USH is low.
确定患有Usher综合征（USH）的西班牙家庭中的基因缺陷以及CLRN1基因可能的受累情况。
使用USH基因分型芯片对我们USH家系队列中受影响成员的DNA样本进行检测，和/或用针对USH3A位点的多态性标记进行基因分型。基于这些先前的分析和临床发现，对17名可能携带该基因突变的患者进行CLRN1基因的直接测序。
微阵列分析在两名无亲缘关系的患者中发现了先前报道的p.Y63X突变，其中一名患者为该突变的纯合子。CLRN1基因测序后，我们发现了两个新的突变，即p.R207X和p.I168N。这两个新突变均与表型共分离。
迄今为止，已报道CLRN1基因有18种突变。在本研究中，我们报告了两个新突变以及在西班牙USH样本中先前鉴定出的第三个突变。CLRN1基因在我们的USH患者中的患病率较低。
