ArticleEuropean journal of human genetics : EJHG2015
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed.
- Article
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- Upregulation of the lncRNACells · 2026Article
- A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes.Genome medicine · 2025Article
- Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Light and sex modifybioRxiv : the preprint server for biology · 2025Article
- Targeting of retrovirus-derivedOpen biology · 2025Article
- Review
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Retrovirus-Derived RTL/SIRH: Their Diverse Roles in the Current Eutherian Developmental System and Contribution to Eutherian Evolution.Biomolecules · 2023Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.Clinical epigenetics · 2023Article
- Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Article
- Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domain.Frontiers in cell and developmental biology · 2023Review
- Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.Frontiers in genetics · 2023Article
- Roles of retrovirus-derivedFrontiers in cell and developmental biology · 2023Review
- Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.The journal of obstetrics and gynaecology research · 2022Article
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- Hepatoblastoma in molecularly defined, congenital diseases.American journal of medical genetics. Part A · 2022Review
- The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders.Translational psychiatry · 2022Review
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6 authors.
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Abstract
Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, -1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29-70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith-Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name 'Kagami-Ogata syndrome' for UPD(14)pat and related conditions.
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