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Fig. 2 | Translational Neurodegeneration

Fig. 2

From: Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Fig. 2

A de novo large deletion in a patient with ARSACS. a The pedigree of case 1 shows segregation of p.K3646fs in SACS and chr13:23490196-24866656del. The analysis of the repeat numbers of 21 core short tandem repeat loci in the four participants showed that the probability of the patient being the alleged parents’ biological son was 99.99%. Open symbol: unaffected; filled symbol: affected; square: male; circle: female; arrow: proband of the family. Symbol with “+/+” indicates patient. Symbols with “+/−” indicate mutation carrier. b CNVseq of the proband and his parents showed that chr13:23490196-24866656del was a de novo mutation, as indicated by the blue box. c Schematic diagram of the known genes in this deletion region (reference human Genome Build GRCh37, UCSC Assembly hg19)

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Translational Neurodegeneration

ISSN: 2047-9158

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