Different Distribution of the Genetic Subtypes of the Prader-Willi Syndrome in the Elderly

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2010 May 13

PMID 20461108

Citations 3

Authors

Margje Sinnema

Kees E P van Roozendaal

Marian A Maaskant

Hubert J M Smeets

John J M Engelen

Nieke Jonker-Houben

Constance T R M Schrander-Stumpel

Leopold M G Curfs

Affiliations

Soon will be listed here.

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.

Citing Articles

Health Problems in Individuals With PWS Are Associated With Lower Quality of Life for Their Parents: A Snapshot in the Brazilian Population.

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QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.

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Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

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