Mylène Béri-Dexheimer

TL;DR: Two novel germline RUNX1 mutations are reported on: an out-of-frame 8 bp heterozygous deletion (c.442_449del) in an FPD/AML pedigree and a de novo 3.5 Mb deletion in the 21q22.11.12 region encompassing the RunX1 gene in a mentally retarded female patient with short stature and thrombocytopenia.

TL;DR: Clinical and molecular delineation of 4q21 deletion supports a novel microdeletion syndrome and suggests a major contribution of PRKG2 and RASGEF1B haploinsufficiency to the core phenotype.

TL;DR: The clinical phenotype of MECP2 duplication syndrome is delineated in a large series of 59 males with severe developmental delay associated with spasticity, stereotypic movements and recurrent infections through a national collaborative study.

TL;DR: There is evidence that loss-of-function of CAMTA1, a brain-specific calcium responsive transcription factor, is responsible for NPCA with or without ID, and DNA sequencing of the CG-1 domain in 197 patients with sporadic or familial non-syndromic intellectual deficiency identified no pathogenic mutation.

TL;DR: The importance of high‐resolution array‐Comparative Genomic Hybridization analysis in exploring the potential role of disease‐causing mutation in functional noncoding sequences is illustrated.