Abstract:
PURPOSE:To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes. METHODS:DNA samples were collected from 19 consanguineous Tunisian families with BBS. Genome-wide scans were performed with microsatellite markers in 12 families, and two-point linkage analyses were performed. Direct sequencing was used to screen patients with BBS for mutations in all eight identified BBS genes. RESULTS:Mutations in the BBS genes were identified in nine families. In addition, a large consanguineous family (57004) showed linkage to the BBS7 locus, although no mutation was identified. Five novel mutations were present in the nine families: one in BBS2 (c.565C>T, p.ArgR189Stop), one in BBS5 (c.123delA, p.Gly42GlufsX11), one in BBS7 (g.47247455_47267458del20004insATA, p.Met284LysfsX7), and two in BBS8 (c.459+1G>A, p.Pro101LeufsX12 and c.355_356insGGTGGAAGGCCAGGCA, p.Thr124ArgfsX43). CONCLUSIONS:All families in which mutations were identified show changes in both copies of the mutant gene, and inheritance patterns in all families are consistent with autosomal recessive inheritance excluding any evidence of triallelism in the BBS genes in Tunisia.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Smaoui N,Chaabouni M,Sergeev YV,Kallel H,Li S,Mahfoudh N,Maazoul F,Kammoun H,Gandoura N,Bouaziz A,Nouiri E,M'Rad R,Chaabouni H,Hejtmancik JFdoi
10.1167/iovs.05-1334subject
Has Abstractpub_date
2006-08-01 00:00:00pages
3487-95issue
8eissn
0146-0404issn
1552-5783pii
47/8/3487journal_volume
47pub_type
杂志文章abstract:Purpose:To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also known as Harboyan syndrome). Furthermore, we developed a cellular model to determine if disease-associated variants induce aberrant SLC4A11 pre-mRNA splicing. ...
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
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abstract::The expression of receptors for Fc portion (FcR) of immunoglobulin G (IgG) and for a C3b component of complement (C3bR) by herpes simplex virus (HSV) was studied in primary cultures of rabbit corneal cells. Monolayer cultures of epithelial, stromal and endothelial cells of the rabbit cornea were infected with three st...
journal_title:Investigative ophthalmology & visual science
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abstract:Purpose:To investigate the chromatic characteristics and intensity-response function of light-induced reflex lacrimation and its correlation with the melanopsin-driven postillumination pupil response (PIPR). Methods:Eleven visually normal participants completed the experiment. Lacrimation was measured in one eye by pl...
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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