布哈拉犹太人中由于PABPN1和NRL基因的连锁突变导致的眼咽肌营养不良和遗传性视网膜营养不良
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
作者信息
Braverman Itzhak, Blumen Sergiu C, Newman Hadas, Rizel Leah, Khayat Morad, Hanna Rana, St Guily Jean Lacau, Tiosano Beatrice, Ben-Yosef Tamar
机构信息
1 Otolaryngology, Head and Neck Surgery Unit, Hillel Yaffe Medical Center , Hadera, Israel .
2 Rappaport Faculty of Medicine , Technion, Haifa, Israel .
出版信息
Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7.
AIM
We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD.
MATERIALS AND METHODS
PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD).
RESULTS
Of 24 unrelated chromosomes from Bukhara Jewish OPMD patients, 19 (79%) harbored the NRL mutation. In contrast, the NRL mutation was not detected in Bukhara Jewish patients diagnosed with IRD but without OPMD.
CONCLUSIONS
Our findings provide an explanation for the reoccurrence of IRD in Bukhara Jewish OPMD homozygotes. Moreover, they indicate that Bukhara Jewish OPMD patients are at high risk for carrying the NRL mutation, and should be offered appropriate genetic counseling and testing.
目的
我们之前描述过两名不相关的布哈拉犹太人（BJs），他们患有眼咽型肌营养不良（OPMD）和遗传性视网膜营养不良（IRD）的组合病症，原因是两个连锁基因PABPN1和NRL发生了突变。在此，我们调查了患有OPMD的布哈拉犹太人中NRL突变的患病率。
材料与方法
通过聚合酶链反应扩增和直接测序，对两组布哈拉犹太患者进行PABPN1和NRL突变检测：OPMD患者（有或无IRD）和IRD患者（无OPMD）。
结果
在来自布哈拉犹太OPMD患者的24条不相关染色体中，19条（79%）携带NRL突变。相比之下，在被诊断患有IRD但无OPMD的布哈拉犹太患者中未检测到NRL突变。
结论
我们的研究结果解释了布哈拉犹太OPMD纯合子中IRD复发的原因。此外，这些结果表明布哈拉犹太OPMD患者携带NRL突变的风险很高，应提供适当的遗传咨询和检测。
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