Families & Caregivers
One of the most valuable resources we have as parents, family, and caregivers to give each other is our experience. Many of us have collected data and records from pregnancy on, as we work with our healthcare providers to give the best care possible. Here we can share our knowledge of our loved ones' symptoms, treatments, and issues. Because so little is known about UPD-14, putting our experiences together can help light the way. The more data we have, the greater our understanding. We are in the process of collecting data so that we as a group of families on the front lines of daily life can contribute to the ongoing study of UPD-14.
What is uniparental disomy?
UPD (uniparental disomy) occurs when people inherit both copies of a chromosome from one parent instead of one copy from each parent. The long arm of chromosome 14 contains some genes that are active only when inherited from the mother, and other genes that are active only when inherited from the father. Therefore, people who have two paternal copies or two maternal copies of chromosome 14 are missing some functional genes and have an extra copy of others. Both maternal UPD 14 and paternal UPD 14 appear to be rare.
Maternal UPD 14
Paternal UPD 14
When both copies of the chromosome are inherited from the father, the phenomenon is known as paternal UPD 14. Paternal UPD 14 is associated with an excess of amniotic fluid (which surrounds the baby before birth); an opening in the wall of the abdomen; distinctive facial features; a small, bell-shaped chest with short ribs; and developmental delay.
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Reprinted from Medline Plus Genetics
When both copies of chromosome 14 are inherited from the mother, the phenomenon is known as maternal UPD 14. Maternal UPD 14 is associated with premature birth, slow growth before and after birth, short stature, developmental delay, small hands and feet, and early onset of puberty.
Research Articles
See below for the list of articles related to the study of UPD-14, both maternal and paternal. The list will be updated as new studies are released.
Wang JCC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK.
Uniparental Heterodisomy for Chromosome-14 in A Phenotypically Abnormal Familial Balanced 13/14 Robertsonian Translocation Carrier. American Journal of Human Genetics 1991; 48(6):1069-1074.
Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P.
Maternal uniparental disomy for chromosome 14. Journal of Medical Genetics 1991; 28(8):511-514.
Sutton VR, Shaffer LG.
Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. American Journal of Medical Genetics 2000; 93(5):381-387.
Wylie AA, Murphy SK, Orton TC, Jirtle RL.
Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Research 2000; 10(11):1711-1718.
Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ.
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. Journal of Medical Genetics 2007; 44(10):637-640.
Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. European Journal of Human Genetics 2008.
Buiting K, Kanber D, Martin-Subero JI, Lieb W, Terhal P, Albrecht B et al.
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Human Mutation 2008.
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Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, et al.
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nature Genetics 2008;40:237–42.
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Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
Placentomegaly in paternal uniparental disomy for human chromosome 14. Placenta. 2008;29:760–1.
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Kagami M, O’Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, et al.
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genetics 2010
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Yamanaka M, Ishikawa H, Saito K, Maruyama Y, Ozawa K, Shibasaki J, et al. Prenatal findings of paternal uniparental disomy 14: report of four patients. American Journal of Medical Genetics 2010;152A:789–91.
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Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, et al. Prenatal findings of paternal uniparental disomy 14: Delineation of further patient. American Journal of Medical Genetics 2010;152A:3189–92.
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Miyazaki O, Nishimura G, Kagami M, Ogata T.
Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14. Pediatric Radiology 2011;41(8):1013-1019.
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Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N et al.
Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations. Epigenetics 2012 Oct 1; 7(10): 1142-1150.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469456/
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Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T.
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. European Journal of Human Genetics 2012;20:928–32.
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Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T.
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14) pat and related conditions (Kagami-Ogata syndrome). European Journal of Human Genetics 2015;23(11): 1488-1498.
https://www.nature.com/articles/ejhg201513
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Ogata T, Kagami M.
Kagami-Ogata syndrome: A clinically recognizable upd(14) pat and related disorder affecting the chromosome 14q32.2 imprinted region. Journal of Human Genetics 2016; 61(2):87-94.
https://www.nature.com/articles/jhg2015113
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Chen C, Lee C, Lin M, Hsu W, Tai Y, Lin S.
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report. Journal of the Formosan Medical Association, 2019,118(3):739-742.
https://www.sciencedirect.com/science/article/pii/S092966461830651X
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Huang H, MIkami Y, Shigematsu K, Uemura N, Shinsaka M, Iwatani A, et al.
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: A case report. Journal of Medical Case Reports 2019;13(1):340.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873543/
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Wang X, Pang H, Shah B, Gu H, Zhang L, Wang H.
A male case of Kagami-Ogata Syndrome caused by paternal uniparental disomy 14 as a result of a Robertsonian translocation. Frontiers in Pediatrics 2020;8:88. https://doi.org/10.3389/fped.2020.00088
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Li F, Liu S, Jia B, Wu R, Chang Q.
Prenatal diagnosis of a mosaic paternal uniparental disomy for chromosome 14: A case report of Kagami-Ogata syndrome. Frontiers in Pediatrics, 21 Oct 2021, 9.
https://doi.org/10.3389/fped.2021.691761
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Sakaria R, Mostafavi R, Miller S, Ward J, Pivnick E, Talati A.
Kagami-Ogata syndrome: Case series and review of literature. American Journal of Perinatology Reports 2021; 11(2):e65-e75.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8159623/
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Suriapperuma T, Randeny S, Mettananda S.
Kagami-Ogata syndrome: A case report. Journal of Medical Case Reports 2022; 16:284.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306061/
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