Supplementary Figure 7: Comparison of D4Z4 methylation in patients with BAMS or FSHD2, the relatives of patients with BAMS and controls. | Nature Genetics

Supplementary Figure 7: Comparison of D4Z4 methylation in patients with BAMS or FSHD2, the relatives of patients with BAMS and controls.

From: De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Supplementary Figure 7

Distribution of methylation for the three different regions within the D4Z4 sequence (DR1, 5′ and Mid) in control individuals, patients with FSHD2 carrying an SMCHD1 mutation, and patients with BAMS and their relatives. Means ± s.e.m. are shown. A Kruskal–Wallis multiple-comparisons test was performed, followed by a Dunn’s test and Bonferroni correction, with α = 0.05. ***P < 0.0001, **P < 0.001, *P < 0.05. Blue points represent outliers; red crosses represent medians. The level of methylation is statistically significantly different between controls and patients with FSHD2 for the DR1 (**P < 0.001) and 5′ (***P < 0.0001) regions. The level of methylation is significantly different between controls and patients with BAMS for the 5′ region (*P < 0.05) and between patients with BAMS and their relatives for the DR1 (*P < 0.05) and 5′ (**P < 0.001) regions.

Back to article page