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Table 1 Overview of included ACD/MPV patients and control samples

From: Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus

Sample ID FOXF1 alteration (Hg38) Time of biopsy Cause of death Co-malformation
ACD-del1 Loss chr16: 86,103,904–86,253,076 Post mortem ACD/MPV None
ACD-del2 Loss chr16: 86,103,904–86,305,560 Post mortem ACD/MPV Omphalecele, hydronephrosis
ACD-del3 Loss chr16: 86,209,574–87,669,623 6 days of life ACD/MPV Chylothorax
ACD-mut1 chr16: 86510735C > G p.(L56V) 34 days of life ACD/MPV Hirshprung (clinical diagnosis)
ACD-mut2 chr16: 86510822T > A p.(F85I) Post mortem ACD/MPV Atrial septal defect, ventricle septal defect, gall bladder agenesis, duodenal atresia, anal atresia, intestinal malrotation
ACD-mut3 chr16: 86510730delT p.(I54Tfs*16) 9 days of life ACD/MPV None
ACD-none1 None Post mortem ACD/MPV None
ACD-none2 None* Post mortem ACD/MPV None
C1 – Post mortem Ventriculomegaly None
C2 – Post mortem Hypovolemic shock None
C3 – Post mortem Asphyction None
  1. All ACD/MPV patients developed critical and life -threatening respiratory insufficiency within the first 24 h after birth
  2. *This patient carried a duplication in the 3’UTR of FOXF1 that was classified as likely benign according to the ACMG classification system [3]
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Clinical Epigenetics

ISSN: 1868-7083

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