Cymbidium goeringii, locally known as the spring orchid in Korea, is one of the most important and popular horticultural species in the family Orchidaceae. C. goeringii cultivars were originated from plants with rare phenotypes in wild mountains where pine trees commonly grow. This study aimed to determine the cultivar-specific combined genotypes (CGs) of short sequence repeats (SSRs) by analyzing multiple samples per cultivar of C. goeringii. In this study, we collected more than 4,000 samples from 67 cultivars and determined the genotypes of 12 SSRs. Based on the most frequent combined genotypes (CG1s), the average observed allele number and combined matching probability were 11.8 per marker and 3.118×10-11, respectively. Frequencies of the CG1 in 50 cultivars (n ≥ 10) ranged from 40.9% to 100.0%, with an average of 70.1%. Assuming that individuals with the CG1 are genuine in the corresponding cultivars, approximately 30% of C. goeringii on the farms and markets may be not genuine. The dendrogram of the phylogenetic tree and principal coordinate analysis largely divided the cultivars into three groups according to their countries of origin; however, the genetic distances were not distant among the cultivars. In conclusion, this dataset of C. goeringii cultivar-specific SSR profiles could be used for ecogenetic studies and forensic authentication. This study suggests that genetic authentication should be introduced for the sale of expensive C. goeringii cultivars. We believe that this study will help establish a genetic method for the forensic authentication of C. goeringii cultivars.

Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity. As a result, eight pathogenic SACS mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with SACS mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was done in four patients, and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without SACS mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with SACS mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with SACS mutations and broaden the clinical spectrum. We suggest screening for SACS in recessive CMT patients with complex phenotypes of ataxia and spasticity.