E. Seemanova

TL;DR: A genome screen of nine BSCL families from two geographical clusters revealed mutations in a gene homologous to the murine guanine nucleotide-binding protein, γ3-linked gene (Gng3lg) in all BSCL2-linked families, of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

TL;DR: In this paper, the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin were studied and a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0).

TL;DR: The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.

TL;DR: Because mutations are found in 92 of the 94 BSCL patients studied, the seipin gene and AGPAT2 are the two major genes involved in the etiology of BSCL, and they are confined to the BSCL phenotype.

TL;DR: The results suggest that autosomal recessive cutis laxa, Debré type, initially considered a dermatologic syndrome, is a multisystemic disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome.