Fig. 3

Genomic studies of carriers; a DNA sequencing of the exon–intron junction of exon 10 and intron 10 reveals a heterozygous germline deletion of the splice donor site of intron 10, c.1312 + 4_1312 + 19del, b Agarose gel showing RT-PCR products obtained from mRNA of the proband with primers localized in exon 8 (forward) and exon 11 (reverse), M is 100 bp ladder, C is negative control, WT is wild-type, and P is pathogenic variant. The expected size is 647 bp while the deletion size is 268 bp, c Sequencing pattern of the deviant band with 268 bp showing the junction of the 3′ end of exon 9 and the 5′ end of exon 11. The original uncropped gel is presented in supplementary Fig. S1