title: Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
abstract: A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.
authors.affiliation: Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany.
authors.forename: Nabeel J M
authors.initials: NJ
authors.lastname: Salem
authors.forename: Maja
authors.initials: M
authors.lastname: Hempel
authors.forename: Katrin-Janine
authors.initials: KJ
authors.lastname: Heiliger
authors.forename: Stuart
authors.initials: S
authors.lastname: Hosie
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
mesh_terms: D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D057895:Haploinsufficiency / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D055748:SOXB1 Transcription Factors / Q000235:genetics*
chemical_list: C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors