Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster - PubMed (original) (raw)
Case Reports
doi: 10.1002/humu.20771.
Deniz Kanber, José I Martín-Subero, Wolfgang Lieb, Paulien Terhal, Beate Albrecht, Sabine Purmann, Stephanie Gross, Christina Lich, Reiner Siebert, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach
Affiliations
- PMID: 18454453
- DOI: 10.1002/humu.20771
Case Reports
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
Karin Buiting et al. Hum Mutat. 2008 Sep.
Abstract
Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes pre- and postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of -1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster.
Similar articles
- Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Hosoki K, et al. Eur J Hum Genet. 2008 Aug;16(8):1019-23. doi: 10.1038/ejhg.2008.90. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478039 - Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
Zechner U, Kohlschmidt N, Rittner G, Damatova N, Beyer V, Haaf T, Bartsch O. Zechner U, et al. Clin Genet. 2009 Mar;75(3):251-8. doi: 10.1111/j.1399-0004.2008.01116.x. Clin Genet. 2009. PMID: 19250383 - Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T. Kagami M, et al. Eur J Hum Genet. 2015 Aug;23(8):1062-7. doi: 10.1038/ejhg.2014.234. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351781 Free PMC article. - Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.
Ogata T, Kagami M, Ferguson-Smith AC. Ogata T, et al. Epigenetics. 2008 Jul-Aug;3(4):181-7. doi: 10.4161/epi.3.4.6550. Epub 2008 Jul 2. Epigenetics. 2008. PMID: 18698157 Review.
Cited by
- Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.
Hu J, Zhang Y, Yang Y, Wang L, Sun Y, Dong M. Hu J, et al. Front Genet. 2022 Aug 11;13:959666. doi: 10.3389/fgene.2022.959666. eCollection 2022. Front Genet. 2022. PMID: 36035167 Free PMC article. - Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation.
Liang D, Aygün N, Matoba N, Ideraabdullah FY, Love MI, Stein JL. Liang D, et al. Hum Mol Genet. 2023 Jan 13;32(3):402-416. doi: 10.1093/hmg/ddac207. Hum Mol Genet. 2023. PMID: 35994039 Free PMC article. - Thyroid Hormone Deiodinases: Dynamic Switches in Developmental Transitions.
Hernandez A, Martinez ME, Ng L, Forrest D. Hernandez A, et al. Endocrinology. 2021 Aug 1;162(8):bqab091. doi: 10.1210/endocr/bqab091. Endocrinology. 2021. PMID: 33963379 Free PMC article. Review. - Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D. Beygo J, et al. Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24. Eur J Hum Genet. 2019. PMID: 31235867 Free PMC article. - The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.
Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K. Beygo J, et al. Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19. Epigenetics. 2018. PMID: 30227764 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Miscellaneous