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Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7.

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

Author information

1
1 Otolaryngology, Head and Neck Surgery Unit, Hillel Yaffe Medical Center , Hadera, Israel .
2
2 Rappaport Faculty of Medicine , Technion, Haifa, Israel .
3
3 Department of Neurology, Hillel Yaffe Medical Center , Hadera, Israel .
4
4 Department of Ophthalmology, Tel Aviv Sourasky Medical Center , Tel Aviv, Israel .
5
5 Sackler Faculty of Medicine, Tel Aviv University , Tel Aviv, Israel .
6
6 Genetics Institute , Emek Medical Center, Afula, Israel .
7
7 Department of Ophthalmology, Hillel Yaffe Medical Center , Hadera, Israel .
8
8 Department of Otolaryngology-Head and Neck Surgery, Tenon Hospital , Paris, France .
9
9 Pierre and Marie Curie University , Paris VI, France .

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.

KEYWORDS:

Bukhara Jews; NRL; PABPN1; oculopharyngeal muscular dystrophy; retinal dystrophy

PMID:
28590779
DOI:
10.1089/gtmb.2016.0429
[Indexed for MEDLINE]

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