ArticleEuropean journal of human genetics : EJHG2016
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.
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 8 papers.
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Who cites it
8 citing papers in PubMed, 45 citations in OpenAlex.
- Evolution of the essential geneProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genome-wide association and functional genomic analyses for body conformation traits in North American Holstein cattle.Frontiers in genetics · 2024Article
- Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.Molecular syndromology · 2023Article
- MN1 gene loss-of-function mutation causes cleft palate in a pedigree.Brain : a journal of neurology · 2021Article
- Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.American journal of human genetics · 2020Article
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain : a journal of neurology · 2020Article
- Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination.PLoS genetics · 2015Article
- Analysis of human soft palate morphogenesis supports regional regulation of palatal fusion.Journal of anatomy · 2015Article
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Authors and funding
14 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.
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