Fig. 3.

Molecular and radiographic findings of the proband in family 20 with an intragenic deletion of exon 2 in IFT74 (NM_025103.3). A Pedigree of family 20. B–D Radiograms of II:4, please note B handle bar appearance of the clavicles; C–D narrow thorax due to short ribs and pelvis with short craniocaudal diameter of the iliac bones, medial acetabular spur and short ischial bones. E The hand shows mild brachydactyly and no polydactyly. F Fetal CT at GA 33 + 0 shows dolichocephaly, short ribs, short tubular bones and a “star-gazing” position. G Schematic figure of IFT74 transcripts (NCBI RefSeq genes; 1: NM_001099224; 2: NM_001099223; 3: NM_001099222; 4: NM_001349928; 5: NM_025103) shows the deletion in light blue and variant details in black (NC_000009.11:g.26959922_26962969delinsTTA) encompassing the initiation site for all transcripts. Previously reported variants in Bardet–Biedl syndrome are marked in red. H IGV pileup over the genomic region with the deletion (homozygous II:4 in upper part and heterozygous parent I:2 lower part) with absent/decreased coverage and paired-end reads. I Schematic presentation of exons 1 to 3 in IFT74 and cDNA sequence from age-matched control (top) shows normal splicing pattern over exon 1 and 2 (amino acids in green) and cDNA sequence from affected child (bottom) shows homozygous skipping of exon 2 (amino acids in red), leading to a new initiation site (ATG + 1) in exon 3 (in-frame). CT computer tomography, GA gestational age, IGV Integrative Genomics viewer