The emerging genetic diversity of hereditary spastic paraplegia in Korean patients

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The emerging genetic diversity of hereditary spastic paraplegia in Korean patients
Jin Ok YangJi Yong Yoon; D H Sung; Sohyun Yun; Jeong Ju Lee; Soo Young Jun; D Halder; Su Jin Jeon; Euijeon Woo; J M Seok; J W Cho; J H Jang; J K Choi; B J Kim; Nam-Soon Kim
Bibliographic Citation
Genomics, vol. 113, no. 6, pp. 4136-4148
Publication Year
Hereditary Spastic Paraplegias (HSP) are a group of rare inherited neurological disorders characterized by progressive loss of corticospinal motor-tract function. Numerous patients with HSP remain undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel genetic variations related to HSP is needed. In this study, we identified 88 genetic variants in 54 genes from whole-exome data of 82 clinically well-defined Korean HSP families. Fifty-six percent were known HSP genes, and 44% were composed of putative candidate HSP genes involved in the HSPome and originally reported neuron-related genes, not previously diagnosed in HSP patients. Their inheritance modes were 39, de novo; 33, autosomal dominant; and 10, autosomal recessive. Notably, ALDH18A1 showed the second highest frequency. Fourteen known HSP genes were firstly reported in Koreans, with some of their variants being predictive of HSP-causing protein malfunction. SPAST and REEP1 mutants with unknown function induced neurite abnormality. Further, 54 HSP-related genes were closely linked to the HSP progression-related network. Additionally, the genetic spectrum and variation of known HSP genes differed across ethnic groups. These results expand the genetic spectrum for HSP and may contribute to the accurate diagnosis and treatment for rare HSP.
Hereditary spastic paraplegiaWhole-exome sequencingRare diseaseGenetic variation
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Division of Biomedical Research > Rare Disease Research Center > 1. Journal Articles
Division of Biomedical Research > Disease Target Structure Research Center > 1. Journal Articles
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