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

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

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

All ACD/MPV patients developed critical and life -threatening respiratory insufficiency within the first 24 h after birth
^*This patient carried a duplication in the 3’UTR of FOXF1 that was classified as likely benign according to the ACMG classification system [3]

ISSN: 1868-7083