Detection of non-coding deletion CNVs upstream to FOXF1 [Agilent-022084]

ABSTRACT: Genomic copy number analysis in patients with ACD/MPV. An unanticipated and tremendous amount of the non-coding sequences of the human genome are transcribed. Long non-coding RNAs (lncRNAs) are non-protein coding transcripts longer than 200 nucleotides and their functions remain enigmatic. We demonstrate that deletions of lncRNA genes cause a lethal lung developmental disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV), with parent of origin effects. We identify non-coding overlapping deletions 250 kb upstream to FOXF1 in nine patients with ACD/MPV that arose de novo specifically on the maternally inherited chromosome and delete a fetal lung-specific EST, part of an lncRNA. These deletions define distant cis-regulatory region that harbors a differe

ORGANISM(S): Homo sapiens

SUBMITTER: Erwin Brosens 

PROVIDER: E-GEOD-38978 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress