Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.

Kévin CassinariAnne Rovelet-LecruxSandrine TuryOlivier QuenezAnne-Claire RichardCamille CharbonnierRobert OlasoAnne BolandJean-François DeleuzeJean-François BesancenotBenoit DelpontDorothée PouliquenFrançois LecoquierrePascal ChambonChristel Thauvin-RobinetDominique CampionThierry FrebourgJean-Luc BattiniGaël Nicolas

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

We identified a deletion of an enhancer of SLC20A2 expression, with carriers showing haploinsufficiency in similar ranges to loss-of-function alleles, and we observed reduced mRNA levels after deleting this element in a cellular model. We propose a 3-step strategy to identify and easily assess the effect of such events. © 2020 International Parkinson and Movement Disorder Society.

Keyphrases

binding protein
transcription factor
poor prognosis
resting state
white matter
chronic kidney disease
copy number
genome wide identification
early onset
functional connectivity
cerebral ischemia