Genome-wide genotyping and sequencing results. a) Genome-wide homozygosity mapping analysis revealed one stretch of homozygous genotypes in all the investigated patients on chromosome17 (indicated by a red bar). b) Whole-exome sequencing IGV of the affected children V2 and V10 showing a 1 bp substitution of a canonical splice site in all reads of ELAC2 exon 15 . Sequence of wild type gene on reverse strand (-) and exon annotation at the bottom.
c) Sanger sequencing verified that the c.1423 + 2 T > A mutation is homozygous in patients (Patient), heterozygous in parents and some of the unaffected siblings (Carriers) and absent in 100 normal controls (Normal)