DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Eliane Beauregard-LacroixGuillermo Pacheco-CuellarNorbert F AjeawungJessica TardifKlaus DieterichTabib DabirDina Vind-KezunovicSusan M WhiteDenes ZadoriClaudia CastiglioniLisbeth TranebjærgPernille Mathiesen TørringEd BlairMarzena WisniewskaMaria Vittoria CamurriYolande van BeverSirinart MolidpereeJuliet TaylorAlexandre Dionne-LaporteSanjay M SisodiyaRaoul C M HennekamPhilippe M Campeau

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We expand the phenotype associated with ATP6V1B2 and propose another causal gene for DOORS syndrome. This finding suggests that DDOD and DOORS syndromes might lie on a spectrum of clinically and molecularly related conditions.

Keyphrases

case report
copy number
gene expression
dna methylation
genome wide identification
genome wide analysis