Intrafamilial variation of the phenotype in Bardet–Biedl syndrome
AIMS To describe the variation of the phenotype within families with several individuals with Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly,...
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| Veröffentlicht in: | British journal of ophthalmology 1997-05, Vol.81 (5), p.378-385 |
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| creator | Riise, Ruth Andréasson, Sten Borgström, Margareta K Wright, Alan F Tommerup, Niels Rosenberg, Thomas Tornqvist, Kristina |
| description | AIMS To describe the variation of the phenotype within families with several individuals with Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. RESULTS Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet–Biedl syndrome. CONCLUSION Comparison of siblings with the Bardet–Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients. |
| doi_str_mv | 10.1136/bjo.81.5.378 |
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| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1722198</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4012597301</sourcerecordid><originalsourceid>FETCH-LOGICAL-b572t-cbef9b91bb8d7f4412de7776fac36b66402b5fa80dff76af781658b8b81a25f03</originalsourceid><addsrcrecordid>eNp9kcGO0zAURS0EGsrAji1SJBBsSPFzGj9nMxITwTAwAoGArWUnNnVJ7GKnI7rjH_hDvgRXrSpggbx4su7Rfde-hNwHOgeo-DO9CnMB83peobhBZrDgomQUm5tkRinFEoDDbXInpVW-Mg54Qk4axpDRakbaSz9FZdXoBqeG4lpFpyYXfBFsMS1NsV4aH6bt2hTOF-cq9mb69ePnuTP9UKSt72MYzV1yy6ohmXuHeUo-vXzxsX1VXr27uGyfX5W6RjaVnTa20Q1oLXq0iwWw3iAit6qruOZ8QZmurRK0txa5siiA10LnA4rVllan5Gzvu97o0fSd2UUf5Dq6UcWtDMrJvxXvlvJLuJaAjEEjssHjg0EM3zYmTXJ0qTPDoLwJmySxyZ9HxW7Tw3_AVdhEnx-XvVA0vKINZurpnupiSCkae4wCVO6qkbkaKUDWMleT8Qd_xj_Chy6y_uigq9SpwUblO5eOGOMCqICMlXvMpcl8P8oqfpUcK6zl28-t_NCy5uL96zdyxz_Z83pc_T_gb9uStAo</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1778963097</pqid></control><display><type>article</type><title>Intrafamilial variation of the phenotype in Bardet–Biedl syndrome</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Riise, Ruth ; Andréasson, Sten ; Borgström, Margareta K ; Wright, Alan F ; Tommerup, Niels ; Rosenberg, Thomas ; Tornqvist, Kristina</creator><creatorcontrib>Riise, Ruth ; Andréasson, Sten ; Borgström, Margareta K ; Wright, Alan F ; Tommerup, Niels ; Rosenberg, Thomas ; Tornqvist, Kristina</creatorcontrib><description>AIMS To describe the variation of the phenotype within families with several individuals with Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. RESULTS Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet–Biedl syndrome. CONCLUSION Comparison of siblings with the Bardet–Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.81.5.378</identifier><identifier>PMID: 9227203</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Adolescent ; Adult ; Bardet–Biedl syndrome ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosomes ; Chromosomes, Human, Pair 15 - genetics ; Complex syndromes ; Diabetes ; Female ; Genetic Linkage ; Genotype & phenotype ; Humans ; Intellectual disabilities ; Intelligence ; Intelligence tests ; intrafamilial variation ; Kidney diseases ; Laurence-Moon Syndrome - genetics ; Laurence-Moon Syndrome - physiopathology ; Male ; Medical genetics ; Medical sciences ; Motor Activity ; Mutation ; Obesity ; Original articles - Clinical science ; Paralysis ; Pedigree ; Phenotype ; Prospective Studies ; Siblings</subject><ispartof>British journal of ophthalmology, 1997-05, Vol.81 (5), p.378-385</ispartof><rights>British Journal of Ophthalmology</rights><rights>1997 INIST-CNRS</rights><rights>Copyright: 1997 British Journal of Ophthalmology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b572t-cbef9b91bb8d7f4412de7776fac36b66402b5fa80dff76af781658b8b81a25f03</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722198/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722198/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2681081$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9227203$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Riise, Ruth</creatorcontrib><creatorcontrib>Andréasson, Sten</creatorcontrib><creatorcontrib>Borgström, Margareta K</creatorcontrib><creatorcontrib>Wright, Alan F</creatorcontrib><creatorcontrib>Tommerup, Niels</creatorcontrib><creatorcontrib>Rosenberg, Thomas</creatorcontrib><creatorcontrib>Tornqvist, Kristina</creatorcontrib><title>Intrafamilial variation of the phenotype in Bardet–Biedl syndrome</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>AIMS To describe the variation of the phenotype within families with several individuals with Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. RESULTS Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet–Biedl syndrome. CONCLUSION Comparison of siblings with the Bardet–Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Bardet–Biedl syndrome</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 15 - genetics</subject><subject>Complex syndromes</subject><subject>Diabetes</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Intelligence</subject><subject>Intelligence tests</subject><subject>intrafamilial variation</subject><subject>Kidney diseases</subject><subject>Laurence-Moon Syndrome - genetics</subject><subject>Laurence-Moon Syndrome - physiopathology</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Motor Activity</subject><subject>Mutation</subject><subject>Obesity</subject><subject>Original articles - Clinical science</subject><subject>Paralysis</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Prospective Studies</subject><subject>Siblings</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kcGO0zAURS0EGsrAji1SJBBsSPFzGj9nMxITwTAwAoGArWUnNnVJ7GKnI7rjH_hDvgRXrSpggbx4su7Rfde-hNwHOgeo-DO9CnMB83peobhBZrDgomQUm5tkRinFEoDDbXInpVW-Mg54Qk4axpDRakbaSz9FZdXoBqeG4lpFpyYXfBFsMS1NsV4aH6bt2hTOF-cq9mb69ePnuTP9UKSt72MYzV1yy6ohmXuHeUo-vXzxsX1VXr27uGyfX5W6RjaVnTa20Q1oLXq0iwWw3iAit6qruOZ8QZmurRK0txa5siiA10LnA4rVllan5Gzvu97o0fSd2UUf5Dq6UcWtDMrJvxXvlvJLuJaAjEEjssHjg0EM3zYmTXJ0qTPDoLwJmySxyZ9HxW7Tw3_AVdhEnx-XvVA0vKINZurpnupiSCkae4wCVO6qkbkaKUDWMleT8Qd_xj_Chy6y_uigq9SpwUblO5eOGOMCqICMlXvMpcl8P8oqfpUcK6zl28-t_NCy5uL96zdyxz_Z83pc_T_gb9uStAo</recordid><startdate>19970501</startdate><enddate>19970501</enddate><creator>Riise, Ruth</creator><creator>Andréasson, Sten</creator><creator>Borgström, Margareta K</creator><creator>Wright, Alan F</creator><creator>Tommerup, Niels</creator><creator>Rosenberg, Thomas</creator><creator>Tornqvist, Kristina</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19970501</creationdate><title>Intrafamilial variation of the phenotype in Bardet–Biedl syndrome</title><author>Riise, Ruth ; Andréasson, Sten ; Borgström, Margareta K ; Wright, Alan F ; Tommerup, Niels ; Rosenberg, Thomas ; Tornqvist, Kristina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b572t-cbef9b91bb8d7f4412de7776fac36b66402b5fa80dff76af781658b8b81a25f03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Bardet–Biedl syndrome</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 15 - genetics</topic><topic>Complex syndromes</topic><topic>Diabetes</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intelligence</topic><topic>Intelligence tests</topic><topic>intrafamilial variation</topic><topic>Kidney diseases</topic><topic>Laurence-Moon Syndrome - genetics</topic><topic>Laurence-Moon Syndrome - physiopathology</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Motor Activity</topic><topic>Mutation</topic><topic>Obesity</topic><topic>Original articles - Clinical science</topic><topic>Paralysis</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Prospective Studies</topic><topic>Siblings</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Riise, Ruth</creatorcontrib><creatorcontrib>Andréasson, Sten</creatorcontrib><creatorcontrib>Borgström, Margareta K</creatorcontrib><creatorcontrib>Wright, Alan F</creatorcontrib><creatorcontrib>Tommerup, Niels</creatorcontrib><creatorcontrib>Rosenberg, Thomas</creatorcontrib><creatorcontrib>Tornqvist, Kristina</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Riise, Ruth</au><au>Andréasson, Sten</au><au>Borgström, Margareta K</au><au>Wright, Alan F</au><au>Tommerup, Niels</au><au>Rosenberg, Thomas</au><au>Tornqvist, Kristina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intrafamilial variation of the phenotype in Bardet–Biedl syndrome</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>1997-05-01</date><risdate>1997</risdate><volume>81</volume><issue>5</issue><spage>378</spage><epage>385</epage><pages>378-385</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><coden>BJOPAL</coden><abstract>AIMS To describe the variation of the phenotype within families with several individuals with Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. RESULTS Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet–Biedl syndrome. CONCLUSION Comparison of siblings with the Bardet–Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>9227203</pmid><doi>10.1136/bjo.81.5.378</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Adolescent Adult Bardet–Biedl syndrome Biological and medical sciences Child Child, Preschool Chromosomes Chromosomes, Human, Pair 15 - genetics Complex syndromes Diabetes Female Genetic Linkage Genotype & phenotype Humans Intellectual disabilities Intelligence Intelligence tests intrafamilial variation Kidney diseases Laurence-Moon Syndrome - genetics Laurence-Moon Syndrome - physiopathology Male Medical genetics Medical sciences Motor Activity Mutation Obesity Original articles - Clinical science Paralysis Pedigree Phenotype Prospective Studies Siblings |
| title | Intrafamilial variation of the phenotype in Bardet–Biedl syndrome |
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