"exome sequencing performed by Armour et al. (2016) found that the patients were compound heterozygous for mutations in the SACS gene, resulting in the correct diagnosis of autosomal recessive spastic ataxia-6 (SACS, SPAX6; 270550). The patients also carried a heterozygous truncating mutation in the TRPS1 gene (604386), consistent with a diagnosis of type I trichorhinophalangeal syndrome. Thus, the patients had 2 different genetic diseases that explained the unusual phenotype."
cited from Online Mendelian Inheritance in Man (OMIM): 190350Zieger M (talk) 06:43, 17 February 2021 (UTC)[reply]
