ArticleAmerican journal of medical genetics. Part A2010
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 77 citations in OpenAlex.
- Exosomal microRNAs in the DLK1-DIO3 imprinted region derived from cancer-associated fibroblasts promote progression of hepatocellular carcinoma by targeting hedgehog interacting protein.BMC gastroenterology · 2022Article
- Kagami-Ogata Syndrome: Case Series and Review of Literature.AJP reports · 2021Article
- Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome.Frontiers in pediatrics · 2021Article
- Effect of Nano-SiONanoscale research letters · 2018Article
- Impact of DLK1-DIO3 imprinted cluster hypomethylation in smoker patients with lung cancer.Oncotarget · 2018Article
- c-Met, CREB1 and EGFR are involved in miR-493-5p inhibition of EMT via AKT/GSK-3β/Snail signaling in prostate cancer.Oncotarget · 2017Article
- New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.European journal of human genetics : EJHG · 2017Article
- Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.Journal of human genetics · 2016Review
- Astrocyte elevated gene-1 and c-Myc cooperate to promote hepatocarcinogenesis in mice.Hepatology (Baltimore, Md.) · 2015Article
- Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.Molecular cytogenetics · 2015Article
- Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.Translational pediatrics · 2014Review
- Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.Molecular cytogenetics · 2014Article
- Genomic imprinting of the type 3 thyroid hormone deiodinase gene: regulation and developmental implications.Biochimica et biophysica acta · 2013Review
- The microRNAs within the DLK1-DIO3 genomic region: involvement in disease pathogenesis.Cellular and molecular life sciences : CMLS · 2013Review
- Specific changes in the expression of imprinted genes in prostate cancer--implications for cancer progression and epigenetic regulation.Asian journal of andrology · 2012Review
- Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.Pediatric radiology · 2011Article
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8 authors at 4 institutions in 2 countries.
Funding
Abstract
Uniparental disomy (UPD) for chromosome 14 is associated with well-recognized phenotypes, depending on the parent of origin. Studies in mouse models and human patients have implicated the involvement of the distal region of the long arm of chromosome 14 in the distinctive phenotypes. This involvement is supported by the identification of an imprinting cluster at chromosome 14q32, encompassing the differentially methylated regions (DMRs), IG-DMR and MEG3-DMR, as well as the maternally expressed genes GTL2, DIO3, and RTL1 and the paternally expressed genes DLK1, RTL1as, and MEG8. Here we report on a preterm female infant with distal segmental paternal UPD14 (upd(14)pat) of 14q32-14q32.33, which resulted in thoracic deformity secondary to rib abnormalities ("coat-hanger" rib sign), polyhydramnios, and other congenital abnormalities characteristically described in cases of complete upd(14)pat. Microsatellite investigation demonstrated UPD of markers D14S250 and D14S1010, encompassing a approximately 3.5 Mb region of distal 14q and involving the imprinting cluster. This case provided insight into the etiology of the phenotypic effects of upd(14)pat, prompting methylation analysis of the GTL2 promoter and the DMR between GTL2 and DLK1. We compare the physical findings seen in this case with those of patients with other causes of abnormal methylation of 14q32, which consistently result in certain distinct clinical features, regardless of the cytogenetic and molecular etiology.
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