Supplementary Figure 1: Linkage and homozygosity plots and analysis of founder mutation. | Nature Genetics

Supplementary Figure 1: Linkage and homozygosity plots and analysis of founder mutation.

From: Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Supplementary Figure 1

(a) Parametric multipoint linkage analysis results from parents and four children genotyped from family 468, with a single peak at chromosome 6. (b) Homozygosity plots showing homozygous blocks (red) in affected individuals from families that were subjected to exome sequencing. (c) A 1.5-Mb haplotype block shared by three affected subjects containing the same c.1132C>T SNX14 mutation. The green arrow depicts the location of the SNX14 mutation.

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