<i>L1CAM</i> splice site mutation in Patient 1.

<p>(A) IGV snapshot of c.3458-1G>A variant in the <i>L1CAM</i> gene (Chr X:153129005, hg19). (B) Sanger sequencing confirmation of c.3458-1G>A variant (NM_000425.3) (C) Partial cDNA sequence showing the mutant allele with the 5 bp deletion.</p

Variant analysis and prioritization workflow.

<p>Summary of our variant evaluation process for identifying candidate mutations</p

Assessed candidate variants found in patients 4–8.

a<p>Father's DNA not available.</p

<i>USP9X</i> splice site mutation in Patient 3.

<p>(A) IGV snapshot of c.1986-1G>T variant in <i>USP9X</i> (Chr X:41025124, hg19). (B) Sanger sequencing confirmation of c.1986-1G>T variant (NM_001039590.2) in Patient 3. (C) Partial cDNA sequence showing expression of both the wild type and low level mutant allele with the 13 bp deletion. (D) Partial cDNA sequence of control patient. (E) Partial genomic DNA sequence of exon 15 (uppercase, blue) and intron 14 (lowercase, red) of <i>USP9X</i> gene showing the c.1986-1G>T variant (arrow) and the 13 bp deletion (r.1986_1998delATTTTTATTGAAG) which is underlined.</p

Summary of MPS data for the eight patients.

<p>Summary of MPS data for the eight patients.</p