Heterozygous single nucleotide variants(SNVs)or copynumber variant(CNV)deletions,involving the mesenchymal forkhead box family transcription factor gene,FOXF1,or its distant lung-specific enhancer,are responsible for ...Heterozygous single nucleotide variants(SNVs)or copynumber variant(CNV)deletions,involving the mesenchymal forkhead box family transcription factor gene,FOXF1,or its distant lung-specific enhancer,are responsible for 80%e90%of cases of alveolar capillary dysplasia with misalignment of pulmonary veins(ACDMPV).1 ACDMPV is a lethal lung developmental disorder with severe progressive respiratory failure and persistent pulmonary arterial hypertension(Supplemental Material).Intriguingly,in contrast to point mutations in FOXF1,the ACDMPV-causative CNV deletions arise de novo almost exclusively on the maternal chromosome 16q24.1.展开更多
基金This work was supported by the grants awarded by the US National Institutes of Health(NIH),National Heart Lung and Blood Institute(NHLBI)R01HL137203Eunice Kennedy Shriver National Institute of Child Health&Human Development(NICHD)grant R01HD087292 to P.St.
文摘Heterozygous single nucleotide variants(SNVs)or copynumber variant(CNV)deletions,involving the mesenchymal forkhead box family transcription factor gene,FOXF1,or its distant lung-specific enhancer,are responsible for 80%e90%of cases of alveolar capillary dysplasia with misalignment of pulmonary veins(ACDMPV).1 ACDMPV is a lethal lung developmental disorder with severe progressive respiratory failure and persistent pulmonary arterial hypertension(Supplemental Material).Intriguingly,in contrast to point mutations in FOXF1,the ACDMPV-causative CNV deletions arise de novo almost exclusively on the maternal chromosome 16q24.1.
