Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.MethodsHigh-resolution...
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Published in | Journal of medical genetics Vol. 56; no. 3; pp. 149 - 153 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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England
BMJ Publishing Group LTD
01.03.2019
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Abstract | BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.MethodsHigh-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age.ResultsWe summarised genetic data from 510 individuals with PWS and 303 (60%) had the 15q11-q13 deletion; 185 (36%) with UPD15 and 22 (4%) with imprinting defects. We further characterised UPD15 findings into subclasses based on the presence (size, location) or absence of loss of heterozygosity (LOH). Additionally, significantly older mothers (mean age=32.5 years vs 27.7 years) were found in the UPD15 group (n=145) compared with the deletion subtype (n=200).ConclusionsWe report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age. |
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AbstractList | BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.MethodsHigh-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age.ResultsWe summarised genetic data from 510 individuals with PWS and 303 (60%) had the 15q11-q13 deletion; 185 (36%) with UPD15 and 22 (4%) with imprinting defects. We further characterised UPD15 findings into subclasses based on the presence (size, location) or absence of loss of heterozygosity (LOH). Additionally, significantly older mothers (mean age=32.5 years vs 27.7 years) were found in the UPD15 group (n=145) compared with the deletion subtype (n=200).ConclusionsWe report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age. Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. Methods High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age. Results We summarised genetic data from 510 individuals with PWS and 303 (60%) had the 15q11-q13 deletion; 185 (36%) with UPD15 and 22 (4%) with imprinting defects. We further characterised UPD15 findings into subclasses based on the presence (size, location) or absence of loss of heterozygosity (LOH). Additionally, significantly older mothers (mean age=32.5 years vs 27.7 years) were found in the UPD15 group (n=145) compared with the deletion subtype (n=200). Conclusions We report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age. Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age. We summarised genetic data from 510 individuals with PWS and 303 (60%) had the 15q11-q13 deletion; 185 (36%) with UPD15 and 22 (4%) with imprinting defects. We further characterised UPD15 findings into subclasses based on the presence (size, location) or absence of loss of heterozygosity (LOH). Additionally, significantly older mothers (mean age=32.5 years vs 27.7 years) were found in the UPD15 group (n=145) compared with the deletion subtype (n=200). We report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age. |
Author | Dykens, Elisabeth Driscoll, Daniel J Manzardo, Ann M Weisensel, Nicolette Butler, Merlin G Tamura, Roy Hartin, Samantha N Gold, June Anne Kim, Soo-Jeong Hossain, Waheeda A Kimonis, Virginia Miller, Jennifer L |
AuthorAffiliation | 4 Department of Pediatrics, Loma-Linda University, Loma-Linda, California, USA 1 Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA 2 Department of Pediatrics, University of California-Irvine, Irvine, California, USA 5 Department of Psychiatry and Behavioral Science, University of Washington School of Medicine, Seattle, Washington, USA 6 College of Arts, Sciences and Letters, Marian University, Fond du Lac, Wisconsin, USA 8 Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida, USA 3 Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee, USA 7 Health Informatics Institute, University of South Florida, Tampa, Florida, USA |
AuthorAffiliation_xml | – name: 1 Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA – name: 5 Department of Psychiatry and Behavioral Science, University of Washington School of Medicine, Seattle, Washington, USA – name: 7 Health Informatics Institute, University of South Florida, Tampa, Florida, USA – name: 4 Department of Pediatrics, Loma-Linda University, Loma-Linda, California, USA – name: 3 Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee, USA – name: 2 Department of Pediatrics, University of California-Irvine, Irvine, California, USA – name: 8 Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida, USA – name: 6 College of Arts, Sciences and Letters, Marian University, Fond du Lac, Wisconsin, USA |
Author_xml | – sequence: 1 givenname: Merlin G surname: Butler fullname: Butler, Merlin G email: mbutler4@kumc.edu organization: Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA – sequence: 2 givenname: Samantha N surname: Hartin fullname: Hartin, Samantha N email: mbutler4@kumc.edu organization: Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA – sequence: 3 givenname: Waheeda A surname: Hossain fullname: Hossain, Waheeda A email: mbutler4@kumc.edu organization: Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA – sequence: 4 givenname: Ann M surname: Manzardo fullname: Manzardo, Ann M email: mbutler4@kumc.edu organization: Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA – sequence: 5 givenname: Virginia orcidid: 0000-0003-1567-4449 surname: Kimonis fullname: Kimonis, Virginia email: mbutler4@kumc.edu organization: Department of Pediatrics, University of California-Irvine, Irvine, California, USA – sequence: 6 givenname: Elisabeth surname: Dykens fullname: Dykens, Elisabeth email: mbutler4@kumc.edu organization: Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee, USA – sequence: 7 givenname: June Anne surname: Gold fullname: Gold, June Anne email: mbutler4@kumc.edu organization: Department of Pediatrics, Loma-Linda University, Loma-Linda, California, USA – sequence: 8 givenname: Soo-Jeong surname: Kim fullname: Kim, Soo-Jeong email: mbutler4@kumc.edu organization: Department of Psychiatry and Behavioral Science, University of Washington School of Medicine, Seattle, Washington, USA – sequence: 9 givenname: Nicolette surname: Weisensel fullname: Weisensel, Nicolette email: mbutler4@kumc.edu organization: College of Arts, Sciences and Letters, Marian University, Fond du Lac, Wisconsin, USA – sequence: 10 givenname: Roy surname: Tamura fullname: Tamura, Roy email: mbutler4@kumc.edu organization: Health Informatics Institute, University of South Florida, Tampa, Florida, USA – sequence: 11 givenname: Jennifer L surname: Miller fullname: Miller, Jennifer L email: mbutler4@kumc.edu organization: Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida, USA – sequence: 12 givenname: Daniel J surname: Driscoll fullname: Driscoll, Daniel J email: mbutler4@kumc.edu organization: Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida, USA |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29730598$$D View this record in MEDLINE/PubMed |
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ContentType | Journal Article |
Copyright | Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2019. All rights reserved. No commercial use is permitted unless otherwise expressly granted. 2019 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2019. All rights reserved. No commercial use is permitted unless otherwise expressly granted. |
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Keywords | pws deletion subtypes Prader-Willi syndrome maternal age effects PWS maternal disomy subclasses molecular genetic classification |
Language | English |
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Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Contributors MGB planned the study design, recruited individuals, collected natural histories and biological samples and served as the primary author of the manuscript. SNH performed genetic analysis of individuals, compiled data from the different sites and contributed to the manuscript. WAH performed genetic analysis of individuals and compiled data from the different sites. AMM and RT performed statistical analyses and contributed to the manuscript. VK recruited individuals, collected natural histories and biological samples and served as an author of the manuscript. ED and DJD planned the study design, recruited individuals, collected natural histories and biological samples and served as an author of the manuscript. JAG and JLM compiled data and contributed to the manuscript. SJK performed genetic analysis of individuals and compiled data. NW recruited individuals, collected natural histories and biological samples and contributed to the manuscript. |
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Snippet | BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening... Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This... Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening... BACKGROUNDPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening... |
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SubjectTerms | Adolescent Adult Age Autism Behavior Child Child, Preschool Chromosome 15 Chromosome Deletion Chromosomes Chromosomes, Human, Pair 15 Cohort analysis Cohort Studies Deoxyribonucleic acid DNA DNA Copy Number Variations DNA methylation Female Genetic Association Studies - methods Genetic Markers Genetic Predisposition to Disease Genetic Testing Genomic imprinting Genotyping Heterozygosity Humans Infant Loss of heterozygosity Male Middle Aged Mutation Obesity Pediatrics Polymorphism, Single Nucleotide Prader-Willi syndrome Prader-Willi Syndrome - diagnosis Prader-Willi Syndrome - genetics Young Adult |
Title | Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study |
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