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Subsequent whole-genome sequencing revealed that the patients are compound heterozygous for variants in the <jats:italic>SPG11<\/jats:italic> gene, including the paternally inherited c.6856C&gt;T (p.Arg2286*) variant and the novel maternally inherited c.2316+5G&gt;A splice-donor region variant. Variants in <jats:italic>SPG11<\/jats:italic> are the common cause of autosomal recessive spastic paraplegia type 11. According to the ClinVar database, there are already 101 reported pathogenic variants in <jats:italic>SPG11<\/jats:italic> that are associated with HSPs. To our knowledge, this is the first report of <jats:italic>SPG11<\/jats:italic> variants in our local population. The novel splice variant identified in this study enriches the catalog of <jats:italic>SPG11<\/jats:italic> variants, potentially leading to better genetic diagnosis of HSPs.<\/jats:p>","DOI":"10.1101\/mcs.a001248","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T14:21:26Z","timestamp":1473344486000},"page":"a001248","source":"Crossref","is-referenced-by-count":7,"title":["Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in <i>SPG11<\/i>"],"prefix":"10.1101","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9568-8316","authenticated-orcid":false,"given":"Allen Chi-Shing","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Yin-Yan","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing 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