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Table 4 The exome sequencing and sanger sequencing results of the 3 candidate genes

From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

Gene Chromosome Position Reference Exome sequencing Sanger sequencing
(NCBI36/hg18) Patient 1 Patient 2 Mother Patient 1 Patient 2 Mother Father
GNAQ 9 79,726,915 G G/T G/T G G G G G
GNAQ 9 79,726,932 T T/A T/A T/A T T T T
DACH2 X 85,856,344 A T T A/T T T A/T A
ABCD1 X 152,654,804 G C C C/G C C C/G G