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Ann Biol Clin (Paris). 2015 Jul-Aug;73(4):469-73. doi: 10.1684/abc.2015.1052.

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.

Author information

1
Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
2
Service d'ophtalmologie, CHU Farhat Hached, Sousse, Tunisie.

Abstract

Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three cases of choroideremia belonging to a Tunisian family. Patients complained of vision loss and night blindness. Fundus examination revealed diffused chorioretenal atrophy. In all cases, there was a visual field constriction and an undetectable electroretinography. Direct sequencing of the CHM gene detected a guanine to adenine transition (G>A) into the donor splice site of intron 1 leads to aberrantly spliced mRNA producing a premature stop codon and therefore functional loss of the CHM gene product, REP-1. The diagnosis should be considered in patients with a suitable family history and fundus findings.

KEYWORDS:

CHM gene; Rab escort protein-1; choroideremia

PMID:
26411914
DOI:
10.1684/abc.2015.1052
[Indexed for MEDLINE]
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