Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes

Itzhak Braverman, Sergiu C. Blumen*, Hadas Newman, Leah Rizel, Morad Khayat, Rana Hanna, Jean Lacau St Guily, Beatrice Tiosano, Tamar Ben-Yosef

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)450-453
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Volume21
Issue number7
DOIs
StatePublished - Jul 2017

Funding

FundersFunder number
Israel Ministry of Health3-11893

    Keywords

    • Bukhara Jews
    • NRL
    • Oculopharyngeal muscular dystrophy
    • PABPN1
    • retinal dystrophy

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