Fig. 1

Clinical and genomic characterization of a familial case of Allan-Herndon-Dudley syndrome. A. Pedigree of the family with two affected male patients (II:2, II:3) presented with global developmental delay, early onset seizures, intellectual disability, and post-natal microcephaly. B. Brain imaging findings of affected individuals II:2 (left, axial view) and II:3 (middle, sagittal view; right, axial view) showing normal structural brain anatomy with suggestive findings of hypomyelination in patient II:3. C. Integrative Genomic Viewer findings of long-read HiFi genome sequencing. It reveals a hemizygous intronic deletion in the SLC16A2 gene shared by the two affected siblings. The deleted region is highlighted in red. D. The genotyping result of the SLC16A2 intronic deletion using a multiplexed PCR method in the family members. The fragment size of wild-type (WT) and the deletion alleles were 373 bp (F1-R1) and 852 bp (F1-R2), respectively. The genotype results confirmed the carrier status in the asymptomatic mother