Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Détails

ID Serval
serval:BIB_AAFE612770E1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Périodique
Investigative Ophthalmology & Visual Science
Auteur(s)
Mataftsi A., Schorderet D.F., Chachoua L., Boussalah M., Nouri M.T., Barthelmes D., Borruat F.X., Munier F.L.
ISSN
0146-0404
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
48
Numéro
11
Pages
5160-5167
Langue
anglais
Résumé
PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenced. RESULTS: Seven of 30 examined family members were affected, including five with EORD and two with LCA. All patients had nystagmus, hemeralopia, mild myopia, and low visual acuity without photophobia. Fundus features were variable among EORD patients: typical spicular retinitis pigmentosa or clumped pigmented retinopathy with age-dependent macular involvement. A salt-and-pepper retinopathy with midperipheral retinal pigment epithelium (RPE) atrophy was present in the older patients with LCA, whereas the retina appeared virtually normal in the younger ones. Both scotopic and photopic electroretinograms were nondetectable. Fundus imaging revealed a perifoveal ring of increased fundus autofluorescence (FAF) in the proband, and optical coherence tomography disclosed a thinned retina, mainly due to photoreceptor loss. Linkage analysis identified a region of homozygosity on chromosome 6, region p21.3, and mutation screening revealed a novel 6-base in-frame duplication, in the TULP1 gene. CONCLUSIONS: Mutation in the TULP1 gene is a rare cause of LCA/EORD, with only 14 mutations reported so far. The observed intrafamilial phenotypic variability could be attributed to disease progression or possibly modifier alleles. This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy.
Mots-clé
Adult, Blindness/congenital, Blindness/diagnosis, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 6/genetics, Consanguinity, DNA Mutational Analysis, Electroretinography, Eye Proteins/genetics, Female, Genes, Duplicate/genetics, Humans, Male, Microsatellite Repeats, Mutation, Myopia/genetics, Nystagmus, Congenital/genetics, Pedigree, Retinal Degeneration/diagnosis, Retinal Degeneration/genetics, Tomography, Optical Coherence, Vision Disorders/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
05/02/2008 10:37
Dernière modification de la notice
20/08/2019 15:14
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