Fig. 1

Different methods used to confirm the gross deletion in patient 1. a Bam file of the proband showed the gross deletion including exons 14 to 17. b Agarose gel electrophoresis results verified the homozygous deletion of the proband. Lanes 1–12 contained PCR products for the proband (exons 14–15), father (exons 14–15), mother (exons 14–15), control (exons 14–15), proband (exon 16), father (exon 16), mother (exon 16), control (exon 16), proband (exon 17), father (exon 17), mother (exon 17) and control (exon 17), respectively. c Sanger sequencing revealed c.1621-258_2178-23del. d Schematic diagram of the three primers used in fluorescent gap PCR analysis. e Capillary electrophoresis of fluorescent gap PCR revealed the homozygous deletion in the proband and the heterozygous deletion in her parents