Emma Howard

TL;DR: It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.

TL;DR: The largest yet reported cohort of 116 patients with Kabuki syndrome is presented, and the analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested.

TL;DR: The known genetic basis of Kabuki syndrome is expanded by presenting five typical patients with the condition, all of whom have novel MLL2 mutation types– two patients with mosaic small deletions, one with a mosaic whole‐gene deletion,One with a multi‐exon deletion and one with an intragenic multi-exon duplication.

TL;DR: It is suggested that the predisposition to malignancy occurs when a second mutation in the tumour suppressor gene occurs, and demonstration of loss of heterozygosity (LOH) is a proven technique for localisation of tumours suppressor genes.