Figure 5 | Scientific Reports

Figure 5

From: Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases

Figure 5

Identification of an SSR associated with Machado–Joseph disease. (A) Pedigree of Fam32 with Machado–Joseph disease. (B) (a) The distribution of number of detected variants across the genome; (b) The distribution of number of detected variants on chromosome 14; (c) Enhanced view of chr14 89.5-95.5 Mb region; (d) Genes located within chr14 91–93 Mb region. (C) PCR validation of SSR in ATXN3; P = Patient, N = Normal, P* = Potential patient who is young and does not exhibit obvious symptoms but carries abnormal CAG repeats. (D) The number of CAG repeats is negatively correlated with the age of onset.

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