Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

American Journal of Medical Genetics. Part a
Jill A RosenfeldJ Britt Ravnan

Abstract

Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentomegaly, and limited survival; its hypothesized cause is overexpression of paternally expressed RTL1, due to absent regulatory effects of maternally expressed RTL1as. UPD(14)mat causes a milder condition with hypotonia, growth failure, and precocious puberty; its hypothesized cause is absence of paternally expressed DLK1. To more clearly establish how gains and losses of imprinted genes can cause disease, we report six individuals with copy number variations of the imprinted 14q32 region identified through clinical microarray-based comparative genomic hybridization. Three individuals presented with UPD(14)mat-like phenotypes (Temple syndrome) and had apparently de novo deletions spanning the imprinted region, including DLK1. One of these deletions was shown to be on the paternal chromosome. Two individuals with UPD(14)pat-like phenotypes had 122-154kb deletions on their maternal chromosomes that included RTL1as but not the differentially methylated regions that regulate imprinted gene...Continue Reading

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Citations

Apr 8, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J A RosenfeldD Chitayat
Sep 4, 2015·American Journal of Medical Genetics. Part a·Giulia SeveriClaudio Graziano
Jul 14, 2016·European Journal of Human Genetics : EJHG·Ilse M van der WerfR Frank Kooy
Sep 16, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Masayo KagamiTsutomu Ogata
Jul 19, 2017·Expert Review of Respiratory Medicine·Jhon R EnterinaWan L Lam
Feb 13, 2018·Human Molecular Genetics·Samuel LessardGuillaume Lettre
Sep 21, 2018·Journal of Human Genetics·Hou-Sung JungJoel A Lefferts
Jun 3, 2021·Genes·Lilla KrokkerHenriett Butz

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