Farzaneh Larti

TL;DR: This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes.

TL;DR: This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

TL;DR: The data suggest that defects in CLIP1 may lead to ARID, a novel autosomal recessive intellectual disability genes investigated in lymphoblastoid and skin fibroblast cell lines established from healthy and affected patients.

TL;DR: Two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs are reported to provide functional evidence linking Z BTB11 dysfunction to this phenotype, and two ID families separating ZBTb11-ortholog knockdown in Drosophila melanogaster brain are reported.

TL;DR: This work is the first description of a functional deficit linking Golgipathies and ciliopathies, diseases so far associated exclusively to mutations in genes coding for proteins expressed within the primary cilium or related ultrastructures, and proposes that these pathologies should be considered as belonging to a larger class of neurodevelopmental diseases depending on proteins involved in the trafficking of proteins towards specific cell membrane compartments.