Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation

American Journal of Medical Genetics. Part a
Giovanni CorselloMario Giuffrè

Abstract

The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal deletion at the 14q32.2-imprinted critical region have been reported so far. Here we report on the first patient with a maternal de novo deletion of 160 kb at the 14q32.2 chromosome that does not involves the IG-DMR or the MEG3-DMR but elicits a full upd(14)pat syndrome's phenotype encompassing the three mentioned MEGs. By the analysis of this unique genotype-phenotype correlation, we further widen the spectrum of the congenital anomalies associated to this rare disorder and we propose that the paternally expressed imprinted RTL1 gene, as we...Continue Reading

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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
Oct 19, 2016·Clinical Dysmorphology·Ho-Ming Luk
Sep 21, 2018·Journal of Human Genetics·Hou-Sung JungJoel A Lefferts
Jun 1, 2021·AJP Reports·Rishika P SakariaAjay J Talati

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