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It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the\n                      <jats:italic>ALG3<\/jats:italic>\n                      gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060\u00a0C\u2009&gt;\u2009T p.(Arg354Cys) in\n                      <jats:italic>ALG3<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our study expands the spectrum of pathogenic variants identified in\n                      <jats:italic>ALG3<\/jats:italic>\n                      . Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12886-021-02013-2","type":"journal-article","created":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T12:03:06Z","timestamp":1622894586000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings"],"prefix":"10.1186","volume":"21","author":[{"given":"Martina","family":"Nov\u00e1kov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Cechova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Ondruskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Zidkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bohdan","family":"Kousal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Honzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Liskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,5]]},"reference":[{"issue":"9","key":"2013_CR1","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.1016\/j.bbagen.2012.02.001","volume":"1820","author":"T Hennet","year":"2012","unstructured":"Hennet T: Diseases of glycosylation beyond classical congenital disorders of glycosylation. 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Written informed consent was obtained from the patient\u2019s parents before inclusion.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"We obtained from the patient\u2019s parents written informed consent for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"249"}}