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Kabuki syndrome (KS, OMIM 147920), also known as Niikawa–Kuroki syndrome, is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterised by a peculiar facial appearance, skeletal abnormalities, joint hypermobility, dermatoglyphic abnormalities, postnatal growth retardation, recurrent otitis media and occasional visceral anomalies. Although some studies have ruled out several loci from the candidacy for KS, any putative disease gene loci or candidate genes remain unidentified.
In a recent issue of the journal, Maas et al1 reported that exon 5 of the C20orf133 gene at 20p12.1 was disrupted by a 250 kb de novo microdeletion in a patient with KS; they also screened for mutations in C20orf133 and FLRT3 (a nested gene located within intron 3 of C20orf133) in 19 additional patients with KS, but failed to detect such mutations or deletions in any of them. It remains unclear whether the two genes are responsible for the pathogenesis of KS, and if so, how frequently the deletion at the locus is found in KS patients. Herein we describe the results of a deletion assay for the exon 5 in C20orf133 and a mutation analysis of C20orf133 and FLRT3 among 43 patients with KS in Japan. In addition, we also show the results of a copy number analysis at 20p12.1 by Human Mapping 250K Nsp Array among 18 patients with KS in Japan.
Ethics approval for this study was obtained from the Committee for the Ethical Issues on Human Genome and Gene Analysis in Nagasaki …
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