Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

ABSTRACT: We identified a novel homozygous 15q13.3 microdeletion in a young boy, with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness, congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper, we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to ascertain the relative effects of the homozygous and heterozygous deletions. We identified 267 genes with apparent dif

SUBMITTER: Le Pichon JB 

PROVIDER: S-EPMC3778357 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature