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De novo variants in the <jats:italic>SLC35A2<\/jats:italic> gene, which encodes a UDP\u2010galactose transporter, are responsible for CDGs with an X\u2010linked dominant manner. Common symptoms related to <jats:italic>SLC35A2<\/jats:italic> variants include epilepsy, psychomotor developmental delay, hypotonia, abnormal facial and skeletal features, and various magnetic resonance imaging (MRI) findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was performed on the patient's DNA, and candidate variants were confirmed by Sanger sequencing. cDNA analysis was performed to assess the effect of the splice site variant using peripheral leukocytes. The X\u2010chromosome inactivation pattern was studied using the human androgen receptor assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a de novo splice site variant in <jats:italic>SLC35A2<\/jats:italic> (NM_005660.2: c.274+1G&gt;A) in a female patient who showed severe developmental delay, spastic paraplegia, mild cerebral atrophy, and delayed myelination on MRI, but no seizures. The variant led to an aberrant splicing resulting in an in\u2010frame 33\u2010bp insertion, which caused an 11\u2010amino acid insertion in the presumptive cytoplasmic loop. X\u2010inactivation pattern was random. Partial loss of galactose and sialic acid of the <jats:italic>N<\/jats:italic>\u2010linked glycans of serum transferrin was observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case would expand the phenotypic spectrum of <jats:italic>SLC35A2<\/jats:italic>\u2010related disorders to delayed myelination with spasticity and no seizures.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.814","type":"journal-article","created":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:04:35Z","timestamp":1561334675000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A case of de novo splice site variant in <i>SLC35A2<\/i> showing developmental delays, spastic paraplegia, and delayed myelination"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2124-4795","authenticated-orcid":false,"given":"Sachiko","family":"Miyamoto","sequence":"first","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7941-1774","authenticated-orcid":false,"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Niigata University Medical and Dental Hospital Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8159-3474","authenticated-orcid":false,"given":"Takuya","family":"Hiraide","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junichi","family":"Takanashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology Tokyo Women's Medical University, Yachiyo Medical Center Yachiyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical University Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Mental Retardation &amp; Birth Defect Research National Institute of Neuroscience National Center of Neurology &amp; Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takehiro","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinao","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Osaka Women's and Children's Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Osaka Women's and Children's Hospital Osaka Japan"},{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0723-0960","authenticated-orcid":false,"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,23]]},"reference":[{"issue":"6","key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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