ArticleClinical genetics2019
Novel heterozygous variants in KMT2D associated with holoprosencephaly.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.Journal of applied genetics · 2025Article
- Exome sequencing uncovers promising candidate genes for foetal structural malformations.The Indian journal of medical research · 2025Article
- Review
- Brain Organization and Human Diseases.Cells · 2022Review
- Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.Frontiers in cell and developmental biology · 2021Review
- Transcription Factor Signatures May Predict the Prognosis and Status of the Immune Microenvironment of Primary Lower-Grade Gliomas.International journal of general medicine · 2021Article
- Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.Frontiers in genetics · 2021Article
- Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.Brain : a journal of neurology · 2020Article
- Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.Orphanet journal of rare diseases · 2019Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene are known to cause Kabuki syndrome (OMIM 147920), a developmental multisystem disorder. Neither holoprosencephaly nor other defects in human forebrain development have been previously associated with Kabuki syndrome. Here we report two patients diagnosed with alobar holoprosencephaly in their antenatal period with de novo monoallelic KMT2D variants identified by trio-based exome sequencing. The first patient was found to have a stop-gain variant c.12565G>T (p.Gly4189*), while the second patient had a missense variant c.5A>G (p.Asp2Gly). Phenotyping of each patient did not reveal any age-related feature of Kabuki syndrome. These two cases represent the first report on association between KMT2D and holoprosencephaly.
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Registered trials
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