Additional file 1: of A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

Table S1. CGG repeat lengths and methylation analysis of a pooled positive control including 18, 30, 32, 56, 85, 116 and >200 CGG. Table S2. Cohort panel distribution of allele sizes and ARs determined using mPCR compared to the activation ratio from Southern blot analysis. (PDF 445 kb

Novel FMR1 sequence variants identified in FXS-like males.

<p>Novel FMR1 sequence variants identified in FXS-like males.</p

Detection of known polymorphisms in FMR1 by array resequencing.

<p>P-values reflect the result of Fisher's exact tests.</p

FMRP expression in control and fragile X tissues.

<p>Western blot of lymphoblastoid cell lysate from a healthy control, a fragile X patient, and a patient harboring a novel deletion in the 5′UTR of <i>FMR1</i>. The protein eIF4e was assessed as a loading control.</p

Phenotypic characteristics of FXS-like patients.

<p>Patients enrolled as FXS-like exhibited at least two of these characteristics.</p

Targeted resequencing of <i>FMR1</i>.

<p>The horizontal axis is formed by intronic sequence, and the numbered vertical spokes represent the 17 exons of <i>FMR1</i>. Coding exonic sequence is shown in blue, while noncoding exonic sequence is shown in white. The black region upstream of exon 1 is the minimal promoter of <i>FMR1</i>. The grey bars represent the four LR-PCR amplicons used for sequencing. The green boxes represent the <i>FMR1</i> regions sequenced with the custom resequencing array.</p

Additional file 1: of Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Low-coverage proportions of candidate genes in replication exomes. (XLSX 43 kb