Figure Legends
Figure 1 Generation process of a candidate variant list using a
four-step strategy. Variants with less than 10× coverage were removed in
the first stage and variants with low population frequency were selected
according to the Genome Aggregation Database (gnomAD)
(http://gnomad.broadinstitute.org/) or the Korean Reference Genome
Database (KRGDB) (http://coda.nih.go.kr/coda/KRGDB/index.jsp). The third
step was to prioritize variants causing missense, nonsense, frameshifts,
and in-frame insertions/deletions variants, or changes affecting
consensus splice site sequences. The last step was a gene-specific
analysis with an in-silico gene panel composed of 903 genes, filtering
for selected phenotype traits Human Phenotype Ontology (HPO)-terms for
Microcephaly (HP:0000252) or Online Mendelian Inheritance in Man (OMIM)
microcephaly phenotype genes.
Figure 2 Chromosomal microarray (CMA) and brain magnetic
resonance imaging (MRI) of patient M-075. (a) CMA shows a 2.8 Mb
deletion at Xp11.4p11.3 containing the CASK gene. (b) Brain MRI
of patient (M-075) demonstrates the microcephaly with pontine and
cerebellar hypoplasia in the T2 weighted sagittal view.