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. 2009 Dec;155(6):900-903.e1.
doi: 10.1016/j.jpeds.2009.06.045. Epub 2009 Oct 1.

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype

Kana Hosoki  1 , Masayo Kagami, Touju Tanaka, Masaya Kubota, Kenji Kurosawa, Mitsuhiro Kato, Kimiaki Uetake, Jun Tohyama, Tsutomu Ogata, Shinji Saitoh
Affiliations

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype

Kana Hosoki et al. J Pediatr. 2009 Dec.

Abstract

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.

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