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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2018

Open Access 01-12-2018 | Research

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

Authors: Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, Maciej Robert Krawczynski

Published in: Orphanet Journal of Rare Diseases | Issue 1/2018

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Abstract

Background

Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin.

Methods

Six male patients from five unrelated families of Polish ethnicity, who were clinically diagnosed with choroideremia, were examined in this study. An ophthalmologic examination performed in all the probands included: best-corrected visual acuity, slit-lamp examination, funduscopy, fluorescein angiography and perimetry. The entire coding region encompassing 15 exons and the flanking intronic sequences of the CHM gene were amplified with PCR and directly sequenced in all the patients.

Results

Five variants in the CHM gene were identified in the five families examined. Two of the variants were new: c.1175dupT and c.83C > G, while three had been previously reported.

Conclusions

This study provides the first molecular genetic characteristics of patients with choroideremia from the previously unexplored Polish population.
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Metadata
Title
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Authors
Anna Skorczyk-Werner
Anna Wawrocka
Natalia Kochalska
Maciej Robert Krawczynski
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2018
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-018-0965-5

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