Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

• Published in: Journal of medical genetics Vol. 56; no. 3; pp. 149 - 153
• Main Authors: Butler, Merlin G, Hartin, Samantha N, Hossain, Waheeda A, Manzardo, Ann M, Kimonis, Virginia, Dykens, Elisabeth, Gold, June Anne, Kim, Soo-Jeong, Weisensel, Nicolette, Tamura, Roy, Miller, Jennifer L, Driscoll, Daniel J
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.03.2019
• Subjects: 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; United States > US; pws deletion subtypes; Prader-Willi syndrome; maternal age effects; PWS maternal disomy subclasses; molecular genetic classification

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...