CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.

In this report we describe a 12p13.33 micro-deletion involving one coding gene only, in contrast with previous studies that mostly concluded that a multi-genes deletion in the 12p13.33 sub-telomeric region is responsible of the minimum clinical phenotype of patients with 12p13.33 monosomy. Certainly, larger deletions spanning multiple Mb in 12p13.33 are responsible for more severe phenotypes, associated to a variable degree of dysmorphic features.
PMID: 31953239 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - January 13, 2020 Category: Genetics & Stem Cells Authors: Mio C, Passon N, Baldan F, Bregant E, Monaco E, Mancini L, Demori E, Damante G Tags: Eur J Med Genet Source Type: research