Clinical and Genetic Epidemiology of Bardet–Biedl Syndrome in Newfoundland: A 22-Year Prospective, Population-Based, Cohort Study
Identifieur interne : 002583 ( Pmc/Checkpoint ); précédent : 002582; suivant : 002584Clinical 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.
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.
Url:
DOI: 10.1002/ajmg.a.30406
PubMed: 15637713
PubMed Central: 3295827
Affiliations:
- Canada, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Maryland, Ontario, Écosse
- Londres, Toronto
- Université de Toronto
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<front><div type="abstract" xml:lang="en"><p id="P1">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.</p>
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<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dean</surname>
<given-names>John C.S.</given-names>
</name>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beales</surname>
<given-names>Philip L.</given-names>
</name>
<xref rid="A8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Katsanis</surname>
<given-names>Nicholas</given-names>
</name>
<xref rid="A9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bassett</surname>
<given-names>Anne S.</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Davidson</surname>
<given-names>William S.</given-names>
</name>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Parfrey</surname>
<given-names>Patrick S.</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Clinical Epidemiology Unit, Memorial University, St John’s, Newfoundland, Canada</aff>
<aff id="A2"><label>2</label>
Department of Medical Genetics, Memorial University, St John’s, Newfoundland, Canada</aff>
<aff id="A3"><label>3</label>
Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada</aff>
<aff id="A4"><label>4</label>
Division of Neurology, Memorial University, St John’s, Newfoundland, Canada</aff>
<aff id="A5"><label>5</label>
Department of Speech and Language Pathology, Memorial University, St John’s, Newfoundland, Canada</aff>
<aff id="A6"><label>6</label>
Department of Radiology, Memorial University, St John’s, Newfoundland, Canada</aff>
<aff id="A7"><label>7</label>
Department of Medical Genetics, Aberdeen University, Aberdeen, Scotland</aff>
<aff id="A8"><label>8</label>
Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom</aff>
<aff id="A9"><label>9</label>
Institute of Genetic Medicine and Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland</aff>
<aff id="A10"><label>10</label>
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</aff>
<author-notes><corresp id="FN1"><label>*</label>
Correspondence to: Dr. Patrick S. Parfrey, University Research Professor, Clinical Epidemiology Unit, Health Sciences Centre, Memorial University, St John’s, Newfoundland, Canada A1B 3V6. <email>pparfrey@mun.ca</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>8</day>
<month>2</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><day>1</day>
<month>2</month>
<year>2005</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>6</day>
<month>3</month>
<year>2012</year>
</pub-date>
<volume>132</volume>
<issue>4</issue>
<fpage>352</fpage>
<lpage>360</lpage>
<permissions><copyright-statement>© 2005 Wiley-Liss, Inc.</copyright-statement>
<copyright-year>2005</copyright-year>
</permissions>
<abstract><p id="P1">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.</p>
</abstract>
<kwd-group><kwd>Bardet–Biedl syndrome</kwd>
<kwd>Laurence-Moon-Biedl syndrome</kwd>
<kwd>genotype–phenotype correlation</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="Canada">Canadian Institutes of Health Research : </funding-source>
<award-id>12155 || </award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
<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>
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