title: Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
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.
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Ilhem
authors.initials: I
authors.lastname: Ben Charfeddine
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Taheni
authors.initials: T
authors.lastname: Ben Lazreg
authors.affiliation: Service d'ophtalmologie, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Narjes
authors.initials: N
authors.lastname: Ben Rayana
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Abdelbasset
authors.initials: A
authors.lastname: Amara
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Ons
authors.initials: O
authors.lastname: Mamaï
authors.affiliation: Service d'ophtalmologie, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Leila
authors.initials: L
authors.lastname: Knani
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Amira
authors.initials: A
authors.lastname: Mili
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Ahlem
authors.initials: A
authors.lastname: M'sakni
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.affiliation: Service d'ophtalmologie, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Fafani
authors.initials: F
authors.lastname: Ben Hadj Hamida
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D015794:Choroideremia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014416:Tunisia
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human
keywords: CHM gene; Rab escort protein-1; choroideremia