Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly
The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mU...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2010-09, Vol.18 (9), p.993-998 |
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| creator | Sinnema, Margje van Roozendaal, Kees E P Maaskant, Marian A Smeets, Hubert J M Engelen, John J M Jonker-Houben, Nieke Schrander-Stumpel, Constance T R M Curfs, Leopold M G |
| description | The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (
z
-score:
P |
| doi_str_mv | 10.1038/ejhg.2010.67 |
| format | Article |
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z
-score:
P
<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2010.67</identifier><identifier>PMID: 20461108</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>631/208/2489/144 ; 692/700/139/1512 ; 692/700/1518 ; Adult ; Adults ; Age composition ; Age groups ; Aged ; Bioinformatics ; Biomedical and Life Sciences ; Biomedicine ; Birth defects ; Caregivers ; Chromosome 15 ; Chromosome translocations ; Chromosomes ; Clonal deletion ; Cytogenetics ; Diagnosis ; Female ; Gene Expression ; Genetic disorders ; Genetic screening ; Genetic Testing ; Genetics ; Genomic Imprinting ; Genotype & phenotype ; Geriatrics ; Human Genetics ; Humans ; Hydrocarbons ; Imprinting ; Intellectual disabilities ; Male ; Mental retardation ; Middle Aged ; Mortality ; Netherlands ; Older people ; Population ; Population studies ; Prader-Willi syndrome ; Prader-Willi Syndrome - genetics ; Psychosis ; Reproductive technologies ; Statistical analysis ; Studies ; Uniparental disomy</subject><ispartof>European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.993-998</ispartof><rights>Macmillan Publishers Limited 2010</rights><rights>Copyright Nature Publishing Group Sep 2010</rights><rights>Copyright © 2010 Macmillan Publishers Limited 2010 Macmillan Publishers Limited</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c473t-fb69e05bbe63ee6793f9b8b25b112f9d546e15190391a500b5e31fb406f29d7d3</citedby><cites>FETCH-LOGICAL-c473t-fb69e05bbe63ee6793f9b8b25b112f9d546e15190391a500b5e31fb406f29d7d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987424/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987424/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20461108$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sinnema, Margje</creatorcontrib><creatorcontrib>van Roozendaal, Kees E P</creatorcontrib><creatorcontrib>Maaskant, Marian A</creatorcontrib><creatorcontrib>Smeets, Hubert J M</creatorcontrib><creatorcontrib>Engelen, John J M</creatorcontrib><creatorcontrib>Jonker-Houben, Nieke</creatorcontrib><creatorcontrib>Schrander-Stumpel, Constance T R M</creatorcontrib><creatorcontrib>Curfs, Leopold M G</creatorcontrib><title>Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (
z
-score:
P
<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood.</description><subject>631/208/2489/144</subject><subject>692/700/139/1512</subject><subject>692/700/1518</subject><subject>Adult</subject><subject>Adults</subject><subject>Age composition</subject><subject>Age groups</subject><subject>Aged</subject><subject>Bioinformatics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Birth defects</subject><subject>Caregivers</subject><subject>Chromosome 15</subject><subject>Chromosome translocations</subject><subject>Chromosomes</subject><subject>Clonal deletion</subject><subject>Cytogenetics</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genetic disorders</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Genetics</subject><subject>Genomic Imprinting</subject><subject>Genotype & phenotype</subject><subject>Geriatrics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hydrocarbons</subject><subject>Imprinting</subject><subject>Intellectual disabilities</subject><subject>Male</subject><subject>Mental retardation</subject><subject>Middle Aged</subject><subject>Mortality</subject><subject>Netherlands</subject><subject>Older people</subject><subject>Population</subject><subject>Population studies</subject><subject>Prader-Willi syndrome</subject><subject>Prader-Willi Syndrome - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sinnema, Margje</au><au>van Roozendaal, Kees E P</au><au>Maaskant, Marian A</au><au>Smeets, Hubert J M</au><au>Engelen, John J M</au><au>Jonker-Houben, Nieke</au><au>Schrander-Stumpel, Constance T R M</au><au>Curfs, Leopold M G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2010-09</date><risdate>2010</risdate><volume>18</volume><issue>9</issue><spage>993</spage><epage>998</epage><pages>993-998</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (
z
-score:
P
<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>20461108</pmid><doi>10.1038/ejhg.2010.67</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.993-998 |
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| subjects | 631/208/2489/144 692/700/139/1512 692/700/1518 Adult Adults Age composition Age groups Aged Bioinformatics Biomedical and Life Sciences Biomedicine Birth defects Caregivers Chromosome 15 Chromosome translocations Chromosomes Clonal deletion Cytogenetics Diagnosis Female Gene Expression Genetic disorders Genetic screening Genetic Testing Genetics Genomic Imprinting Genotype & phenotype Geriatrics Human Genetics Humans Hydrocarbons Imprinting Intellectual disabilities Male Mental retardation Middle Aged Mortality Netherlands Older people Population Population studies Prader-Willi syndrome Prader-Willi Syndrome - genetics Psychosis Reproductive technologies Statistical analysis Studies Uniparental disomy |
| title | Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly |
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