Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
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The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.
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rs7160413 (menarche P=2.2×10−5) is near DLK1, a gene implicated in early onset puberty.
“rs7160413 (menarche P-value=2.2×10−5) is near DLK1, a gene implicated in early onset puberty29.”
From Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) · cites this paper as [29]
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- Authors
- Temple, I. K., Shrubb, V, Lever, M., Bullman, H., & Mackay, D. J. G.
- Affiliations
- Princess Anne Hospital (GB)
- Wessex Regional Genetics Laboratory (GB)
- Corresponding author
- Temple, I K
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2007-06-29
- Volume
- 44
- Issue
- 10
- Pages
- 637-640
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC2597958
- OpenAlex
- W2098923511
- Cited by
- 63
- References
- 14
- Citations by year
- 2025: 1 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 1 · 2018: 1 · 2017: 2 · 2016: 4 · 2015: 6 · 2014: 6 · 2013: 1 · 2012: 5
- FWCI
- 4.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Funders
- Diabetes UK
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- chromosome 14q32, DNA methylation loss, growth retardation, hypotonia, scoliosis
- MeSH terms
- Animals, Calcium-Binding Proteins, Child, Chromosomes, Human, Pair 14, Drosophila, Humans, Male, Membrane Proteins, Methylation, Phenotype, Proteins, Genomic Imprinting, Microsatellite Repeats, DNA Methylation, Uniparental Disomy, Intercellular Signaling Peptides and Proteins, RNA, Long Noncoding
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