{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T23:26:58Z","timestamp":1775863618605,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T00:00:00Z","timestamp":1513641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>22q11.2 deletion syndrome is one of the most common human microdeletion syndromes. The clinical phenotype of 22q11.2 deletion syndrome is variable, ranging from mild to life\u2010threatening symptoms, depending mainly on the extent of the deleted region. Brain malformations described in association with 22q11.2 deletion syndrome include polymicrogyria, cerebellar hypoplasia, megacisterna magna, and agenesis of the corpus callosum (ACC), although these are rare. We report here for the first time a patient who manifested combined D\u20102\u2010 and L\u20102\u2010hydroxyglutaric aciduria as a result of a hemizygous mutation in <jats:italic>SLC25A1<\/jats:italic> in combination with 22q11.2 deletion. The girl was diagnosed to have ACC shortly after birth and a deletion of 22q11.2 was identified by genetic analysis. Although the patient showed cardiac anomalies, which is one of the typical symptoms of 22q11.2 deletion syndrome, her rather severe phenotype and atypical face prompted us to search for additional pathogenic mutations. Three genes present in the deleted 22q11.2 region, <jats:italic>SLC25A1<\/jats:italic>, <jats:italic>TUBA8<\/jats:italic>, and <jats:italic>SNAP29<\/jats:italic>, which have been reported to be associated with brain malformation, were analyzed for the presence of pathogenic mutations. A frameshift mutation, c.18_24dup (p.Ala9Profs*82), was identified in the first exon of the remaining <jats:italic>SLC25A1<\/jats:italic> allele, resulting in the complete loss of normal <jats:italic>SLC25A1<\/jats:italic> function in the patient's cells. Our results support the notion that the existence of another genetic abnormality involving the retained allele on 22q11.2 should be considered when atypical or rare phenotypes are observed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38578","type":"journal-article","created":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T12:47:04Z","timestamp":1513687624000},"page":"351-358","source":"Crossref","is-referenced-by-count":9,"title":["Manifestation of recessive combined D\u20102\u2010, L\u20102\u2010hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8727-1732","authenticated-orcid":false,"given":"Mariko","family":"Eguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine Toon Ehime Japan"},{"name":"Division of Medical Genetics Ehime University Hospital Toon Ehime 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