Fig. 2

Schematic representation of 17q23.1q23.2 copy-number variant deletion region. a The 17q23.1q23.2 region (hg19) depicting the identified deletion in the presented patient with pulmonary hypoplasia. The genes mapping within the deletion, including TBX4, and complex low-copy repeats flanking the recurrent deletion are shown. b Alignment tracks showing whole genome sequencing coverage at 17q23.1q23.2 region in the father, mother, and child (upper, middle, and bottom track, respectively). c Distribution of single nucleotide variants (SNVs) in the putative lung-specific enhancer region located upstream to TBX4, identified in present subject (red) and other patients with lethal lung developmental disorders (black), are presented. Variants reported previously and also detected in present case are indicated by black dashed rectangles [31]. Chromatin state annotation track based on ChIP-seq mapping (Roadmap) in the IMR-90 cell line within the chr17:59,278,024-59,462,062 genomic region, as well as H3K27Ac, and H3K4Me1 marks found in fetal lung are shown below the SNVs track