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

<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

A) Bland-Altman plot of the myocardial T2 values obtained locally twice within a week, with the 95% confidence intervals shown as a dotted line

B) Scatter plot of the myocardial T2 values obtained locally twice within a week. The diagonal line shows the line of identity.<p><b>Copyright information:</b></p><p>Taken from "Multi-center transferability of a breath-hold T2 technique for myocardial iron assessment"</p><p>http://www.jcmr-online.com/content/10/1/11</p><p>Journal of Cardiovascular Magnetic Resonance 2008;10(1):11-11.</p><p>Published online 21 Feb 2008</p><p>PMCID:PMC2279115.</p><p></p