Fig. 2

Molecular analysis of the patient and his family members. (a) A Sanger sequencing of the DNA derived from the peripheral blood of the proband and his parents and from dried umbilical cord of his deceased brother revealed that the patient and his deceased brother had a hemizygous variant of the SLC25A46 gene, Chr5(GRCh37):g.110081969G > A, NM_138773.2 c.385-1G > A, which was derived from his mother. (b) Paternally derived 80-kb deletion spanning the TMEM232 and SLC25A46 loci. Top: Coverage diagram of the short-read whole genome sequencing in the father. Bottom: Coverage diagram of the short-read whole genome sequencing and long-read sequencing of PCR products amplified across the deletion. The deletion spans highly homologous L1 elements (L1PA4 in the intron of theTMEM232 locus and L1PA2 at the intergenic region telomeric to the SLC25A46). (c) Detailed view of the extent of the deleted region based on GRCh37 (hg19) coordinates