Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.

European Journal of Human Genetics : EJHG
Masayo KagamiTsutomu Ogata

Abstract

Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethylations) affecting the DMRs. However, relative frequency of such underlying genetic causes remains to be clarified, as well as that of underlying mechanisms of UPD(14)pat, that is, trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and post-fertilization mitotic error (PE). To examine this matter, we sequentially performed methylation analysis, microsatellite analysis, fluorescence in situ hybridization, and array-based comparative genomic hybridization in 26 patients with UPD(14)pat-like phenotype. Consequently, we identified UPD(14)pat in 17 patients (65.4%), microdeletions of different patterns in 5 patients (19.2%), and epimutations in 4 patients (15.4%). Furthermore, UPD(14)pat was found to be generated through TR or GC in 5 patients (29.4%), MR or PE in 11 patients (64.7%), and PE in 1 patient (5.9%). Advanced maternal age at childbirth (≥35 years) was predominantly observed in the MR/PE subtype. The result...Continue Reading

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Citations

Nov 22, 2013·American Journal of Medical Genetics. Part a·Aiko SasakiMasayo Kagami
Feb 7, 2015·The Journal of Obstetrics and Gynaecology Research·Takafumi WatanabeKeiya Fujimori
Aug 25, 2012·Epigenetics : Official Journal of the DNA Methylation Society·Masayo KagamiTsutomu Ogata
Mar 31, 2015·Reproduction : the Official Journal of the Society for the Study of Fertility·Mark Howard, Marika Charalambous
Dec 31, 2014·Trends in Molecular Medicine·Thomas EggermannDieter Kotzot
Jun 18, 2016·Molecular Cytogenetics·Juliana Dourado GrzesiukLucia Martelli
Jul 14, 2016·European Journal of Human Genetics : EJHG·Ilse M van der WerfR Frank Kooy
Sep 3, 2014·Journal of Perinatology : Official Journal of the California Perinatal Association·K M SargarM J Siegel
Jul 30, 2015·American Journal of Medical Genetics. Part a·Diana DarcyRobert Wallerstein
Mar 11, 2015·American Journal of Medical Genetics. Part a·Jill A RosenfeldJ Britt Ravnan
Oct 19, 2016·Clinical Dysmorphology·Ho-Ming Luk
Aug 8, 2018·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Keiko MatsubaraMaki Fukami
Jun 24, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Masayo KagamiTsutomu Ogata
Jun 1, 2021·AJP Reports·Rishika P SakariaAjay J Talati

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