title: Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
abstract: Agenesis of the corpus callosum (ACC) is a common brain anomaly with a birth incidence of at least 1 in 4,000. ACC can occur as an isolated malformation or as a component of a syndrome. Here, we report on an autosomal recessive syndrome with ACC, optic coloboma, craniofacial dysmorphism, skeletal anomalies, and intractable seizures in a brother and sister from a consanguineous family. Homozygosity mapping excluded three genes, VAX1, ASXL2, and ZNF462, which have previously been implicated in ACC with optic coloboma. This case presents many features similar to Temtamy syndrome and will help in establishing the spectrum of this disorder.
authors.affiliation: Department of Neurology, University of California, San Francisco, California 94143, USA.
authors.forename: Jiang
authors.initials: J
authors.lastname: Li
authors.forename: Shilpa
authors.initials: S
authors.lastname: Shivakumar
authors.forename: Mari
authors.initials: M
authors.lastname: Wakahiro
authors.forename: Pratik
authors.initials: P
authors.lastname: Mukherjee
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.forename: Elliott H
authors.initials: EH
authors.lastname: Sherr
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D003103:Coloboma / Q000235:genetics / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D011877:Radionuclide Imaging; D012640:Seizures / Q000235:genetics / Q000473:pathology; D013577:Syndrome