Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

Objective To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)–like phenotype. Study design We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test fol...

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Bibliographic Details
Published in:The Journal of pediatrics 2009-12, Vol.155 (6), p.900-903.e1
Main Authors: Hosoki, Kana, MS, Kagami, Masayo, MD, PhD, Tanaka, Touju, MD, PhD, Kubota, Masaya, MD, PhD, Kurosawa, Kenji, MD, PhD, Kato, Mitsuhiro, MD, PhD, Uetake, Kimiaki, MD, Tohyama, Jun, MD, PhD, Ogata, Tsutomu, MD, PhD, Saitoh, Shinji, MD, PhD
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Chromosomes, Human, Pair 14 - genetics
Cohort Studies
Complex syndromes
Female
General aspects
Humans
Infant
Male
Medical genetics
Medical sciences
Metabolic diseases
Obesity
Pediatrics
Phenotype
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - genetics
Promoter Regions, Genetic - genetics
Proteins - genetics
RNA, Long Noncoding
Syndrome
Uniparental Disomy - diagnosis
Uniparental Disomy - genetics
Young Adult
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Summary:Objective To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)–like phenotype. Study design We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test followed by microsatellite polymorphism analysis of chromosome 14 was performed to detect upd(14)mat or other related abnormalities affecting the 14q32.2-imprinted region. Results We identified 4 patients with upd(14)mat and 1 patient with an epimutation in the 14q32.2 imprinted region. Of the 4 patients with upd(14)mat, 3 had full upd(14)mat and 1 was mosaic. Conclusions Upd(14)mat and epimutation of 14q32.2 represent clinically discernible phenotypes and should be designated “upd(14)mat syndrome.” This syndrome demonstrates a PWS-like phenotype particularly during infancy. The MEG3 methylation test can detect upd(14)mat syndrome defects and should therefore be performed for all undiagnosed infants with hypotonia.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2009.06.045