title: GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
abstract: We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa, USA.
authors.forename: Fedik
authors.initials: F
authors.lastname: Rahimov
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Eziquiel
authors.initials: E
authors.lastname: de Miranda
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000853:Anophthalmos / Q000473:pathology; D001938:Brazil; D002490:Central Nervous System / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics / Q000473:pathology; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009666:Nose / Q000002:abnormalities; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D000075746:Zinc Finger Protein Gli2
chemical_list: C082593:GLI2 protein, human; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; D000075746:Zinc Finger Protein Gli2