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Clin Epigenetics ; 15(1): 169, 2023 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-37865798

RESUMO

Heterozygous SNVs or CNV deletions involving the FOXF1 gene, or its distant enhancer, are causative for 80-90% of cases of alveolar capillary dysplasia with misalignment of pulmonary veins. Recently, we proposed bimodal structure and parental functional dimorphism of the lung-specific FOXF1 enhancer, with Unit 1 having higher activity on the paternal chr16 and Unit 2 on the maternal chr16. Here, we describe a novel unusually sized pathogenic de novo copy-number variant deletion involving a portion of the FOXF1 enhancer on maternal chr16 that implies narrowing Unit 2 to an essential ~ 9-kb segment. Using a restrictase-based assay, we found that this enhancer segment is weakly methylated at ApT adenine, with about twice the frequency of methylation on the maternal versus paternal chr16. Our data provide further insight into the FOXF1 enhancer structure and function.


Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal , Humanos , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Deleção de Sequência , Metilação de DNA , Pulmão/patologia , Elementos Facilitadores Genéticos , Fatores de Transcrição Forkhead/genética
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