The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

ABSTRACT:

Background

Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown.

Methods

Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution.

Results

In 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.

Conclusion

The de novo nature of the deletion, the expression data and the fact that C20orf133 carries a macro domain, suggesting a role fo

SUBMITTER: Maas NM 

PROVIDER: S-EPMC2597955 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature