Genotyping of patient 2.

(A) Homozygous mutation call c.1878A>T in FANCJ detected in NGS data of patient 2–1. (B) Autozygosity mapping with SNP data of the family of project 2. The figure schematically presents chromosome 17 (positions in Mb) of each family member. Heterozygous SNP calls are displayed in yellow, homozygous calls in black. The three affected siblings share a homozygous region between 53.3 Mb and 68.8 Mb. (C) Confirmation of homozygosity of the mutation in patient 2–1 and heterozygosity in his parents by Sanger sequencing electropherograms, consistent with Mendelian segregation.