ArticleJournal of medical genetics2007
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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22 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
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- Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.European journal of human genetics : EJHG · 2012Article
- Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.American journal of human genetics · 2012Article
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundKabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown.
methodsFour carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution.
resultsIn one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exon 5 of C20orf133. The function of this gene is unknown. In situ hybridisation with the mouse orthologue of C20orf133 showed expression mainly in brain, but also in kidney, eye, inner ear, ganglia of the peripheral nervous system and lung.
conclusionThe de novo nature of the deletion, the expression data and the fact that C20orf133 carries a macro domain, suggesting a role for the gene in chromatin biology, make the gene a likely candidate to cause the phenotype in this patient with KS. Both the finding of different of chromosomal rearrangements in patients with KS features and the absence of C20orf133 mutations in 19 additional patients with KS suggest that KS is genetically heterogeneous.
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