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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]