{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T15:44:59Z","timestamp":1785167099964,"version":"3.55.0"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T00:00:00Z","timestamp":1657497600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Genetic causes in most affected children with intellectual disability and\/or development delay remain unknown.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> To identify potential variants responsible for these disorders, we recruited 161 affected families and performed whole-exome sequencing and associated bioinformatics analysis.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> In the present study, we report the identification of variants in the <jats:italic>ALG13<\/jats:italic> gene in two of the families. In family 1, a known pathogenic missense variant (c.23T &amp;gt; C; p.V8A) of <jats:italic>ALG13<\/jats:italic> was identified in a boy and his mother. In family 2, a novel missense variant (c.862C &amp;gt; G; p.L288V) of the same gene was identified in the affected boy and his phenotypically normal mother. Genotype\u2013phenotype correlation analysis by comparing reported 28 different variants (HGMD) showed that three major phenotypes, including various seizures\/epilepsy, intellectual disability, and development delay (such as growth, speech, motor, etc.), are present in most affected individuals. However, other phenotypes, such as strabismus and absence of seizure in our second patient, are not reported if any, which may represent a unique case of X-linked recessive nonsyndromic disorder caused by a mutation in <jats:italic>ALG13<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> We identified two missense variants in <jats:italic>ALG13<\/jats:italic> in a cohort of 161 families with affected individuals diagnosed as intellectual disability and\/or development delay. A novel c.862C &amp;gt; G mutation may represent a case of X-linked recessive.<\/jats:p>","DOI":"10.3389\/fgene.2022.892940","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T11:26:37Z","timestamp":1657538797000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis"],"prefix":"10.3389","volume":"13","author":[{"given":"Tao","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieting","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuwei","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siqi","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinwen","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhichun","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1002\/jimd.12378","article-title":"ALG13 X\u2010linked Intellectual Disability: New Variants, Glycosylation Analysis, and Expanded Phenotypes","volume":"44","author":"Alsharhan","year":"2021","journal-title":"J Inher Metab Disea"},{"key":"B2","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/s13052-020-00860-1","article-title":"Targeted Re-sequencing for Early Diagnosis of Genetic Causes of Childhood Epilepsy: the Italian Experience from the 'beyond Epilepsy' Project","volume":"46","author":"Amadori","year":"2020","journal-title":"Ital. 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