ArticleEuropean journal of human genetics : EJHG2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 62 citations in OpenAlex.
- Genome-wide profiling of RNA 2'-O-methylation in neurons and identification of orphan snoRNA targets.Research square · 2026Article
- Genome-wide profiling of RNA 2'-bioRxiv : the preprint server for biology · 2025Article
- Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.BMC medical genomics · 2024Review
- The long non-coding RNA Meg3 mediates imprinted gene expression during stem cell differentiation.Nucleic acids research · 2024Article
- Imprinted Long Non-Coding RNAs in Mammalian Development and Disease.International journal of molecular sciences · 2023Review
- Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.Frontiers in genetics · 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
- The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets.Frontiers in cell and developmental biology · 2021Review
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
- Review
- Syndromic Disorders Caused by Disturbed Human ImprintingJournal of clinical research in pediatric endocrinology · 2020Review
- Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.NPJ genomic medicine · 2020Article
- A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation.Frontiers in pediatrics · 2020Article
- CTCF modulates allele-specific sub-TAD organization and imprinted gene activity at the mouse Dlk1-Dio3 and Igf2-H19 domains.Genome biology · 2019Article
- Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.Journal of human genetics · 2018Article
- 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
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In approximately 20% of individuals with Kagami-Ogata syndrome (KOS14, MIM 608149), characterized by a bell-shaped thorax with coat-hanger configuration of the ribs, joint contractures, abdominal wall defects and polyhydramnios during the pregnancy, the syndrome is caused by a maternal deletion of the imprinted gene cluster in chromosome 14q32.2. Most deletions reported so far included one or both of the differentially methylated regions (DMRs) - DLK1/MEG3 IG-DMR and MEG3-DMR. We present two unrelated families with two affected siblings each, presenting with classical KOS14 due to maternally inherited microdeletions. Interestingly, all four patients have lived through to adulthood, even though mortality rates for patients with KOS14 due to a microdeletion are relatively high. In the first family, none of the DMRs is included in the deletion and the methylation status is identical to that of controls. Deletions that do not encompass the DMRs in this region are thus sufficient to elicit the full KOS14 phenotype. In the second family, a partially overlapping deletion including both DMRs and MEG3 was detected. In summary, we show that patients with KOS14 can live into adulthood, that causal deletions do not have to include the DMRs and that consequently a normal methylation pattern does not exclude KOS14.
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