Lionel Van Maldergem

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: It is demonstrated that normal TUBB3 is required for axon guidance and maintenance in mammals and it is shown that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules.

TL;DR: A genome-wide screen with 264 microsatellites markers in 51 multiplex families revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp, and found that the most significant multipoint linkage was close to marker D6S283.

TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.

TL;DR: It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.