Shanaz Pasha

TL;DR: This work mapped a locus for infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.

TL;DR: Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system, hepatic ductal Dysplasia and cysts and polydactyly, and a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression.

TL;DR: A family with BWS and an IC2 epimutation in which affected siblings had inherited different parental 11p15.5 alleles excluding an in cis mechanism is reported, consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans.

TL;DR: In humans, loss-of-function SLC6A3 mutations that impair DAT-mediated dopamine transport activity are associated with an early-onset complex movement disorder, and identification of the molecular basis of IPD suggests SLC 6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features.

TL;DR: The findings imply that RAB18 has a critical role in human brain and eye development and neurodegeneration, and Knockdown of rab18 in zebrafish suggests that it might have a conserved developmental role.