Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study
Identifieur interne : 006486 ( Main/Exploration ); précédent : 006485; suivant : 006487Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study
Auteurs : Susan J. Moore [Canada] ; Jane S. Green [Canada] ; Yanli Fan [Canada] ; Ashvinder K. Bhogal [Canada] ; Elizabeth Dicks [Canada] ; Bridget A. Fernandez [Canada] ; Mark Stefanelli [Canada] ; Christopher Murphy [Canada] ; Benvon C. Cramer [Canada] ; John C. S. Dean [Royaume-Uni] ; Philip L. Beales [Royaume-Uni] ; Nicholas Katsanis [États-Unis] ; Anne S. Bassett [Canada] ; William S. Davidson [Canada] ; Patrick S. Parfrey [Canada]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2005-02-01.
English descriptors
Abstract
Bardet–Biedl syndrome (BBS) and Laurence–Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype–phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1–68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co‐ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype–phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs. © 2005 Wiley‐Liss, Inc.
Url:
- https://api.istex.fr/document/549D3EB37B1F0352BAE83D1F7B7C37329C69267F/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295827
DOI: 10.1002/ajmg.a.30406
Affiliations:
- Canada, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Maryland, Ontario, Écosse
- Londres, Toronto
- Université de Toronto
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Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-02-01">2005-02-01</date><biblScope unit="volume">132A</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="352">352</biblScope><biblScope unit="page" to="360">360</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">549D3EB37B1F0352BAE83D1F7B7C37329C69267F</idno><idno type="DOI">10.1002/ajmg.a.30406</idno><idno type="ArticleID">AJMG30406</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bardet–Biedl syndrome</term><term>Laurence‐Moon‐Biedl syndrome</term><term>genotype–phenotype correlation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bardet–Biedl syndrome (BBS) and Laurence–Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype–phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1–68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co‐ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype–phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs. © 2005 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Maryland</li><li>Ontario</li><li>Écosse</li></region><settlement><li>Londres</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Moore, Susan J" sort="Moore, Susan J" uniqKey="Moore S" first="Susan J." last="Moore">Susan J. Moore</name></noRegion><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bhogal, Ashvinder K" sort="Bhogal, Ashvinder K" uniqKey="Bhogal A" first="Ashvinder K." last="Bhogal">Ashvinder K. Bhogal</name><name sortKey="Cramer, Benvon C" sort="Cramer, Benvon C" uniqKey="Cramer B" first="Benvon C." last="Cramer">Benvon C. Cramer</name><name sortKey="Davidson, William S" sort="Davidson, William S" uniqKey="Davidson W" first="William S." last="Davidson">William S. Davidson</name><name sortKey="Dicks, Elizabeth" sort="Dicks, Elizabeth" uniqKey="Dicks E" first="Elizabeth" last="Dicks">Elizabeth Dicks</name><name sortKey="Fan, Yanli" sort="Fan, Yanli" uniqKey="Fan Y" first="Yanli" last="Fan">Yanli Fan</name><name sortKey="Fernandez, Bridget A" sort="Fernandez, Bridget A" uniqKey="Fernandez B" first="Bridget A." last="Fernandez">Bridget A. Fernandez</name><name sortKey="Green, Jane S" sort="Green, Jane S" uniqKey="Green J" first="Jane S." last="Green">Jane S. Green</name><name sortKey="Murphy, Christopher" sort="Murphy, Christopher" uniqKey="Murphy C" first="Christopher" last="Murphy">Christopher Murphy</name><name sortKey="Parfrey, Patrick S" sort="Parfrey, Patrick S" uniqKey="Parfrey P" first="Patrick S." last="Parfrey">Patrick S. Parfrey</name><name sortKey="Stefanelli, Mark" sort="Stefanelli, Mark" uniqKey="Stefanelli M" first="Mark" last="Stefanelli">Mark Stefanelli</name></country><country name="Royaume-Uni"><region name="Écosse"><name sortKey="Dean, John C S" sort="Dean, John C S" uniqKey="Dean J" first="John C. S." last="Dean">John C. S. Dean</name></region><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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