title: SIX3 mutations with holoprosencephaly.
abstract: Here, we report six Brazilian patients with holoprosencephaly caused by SIX3 mutations. Missense mutations were more common than frameshift mutations. Comparison of patients with missense versus frameshift mutations was essentially unremarkable. Our cases suggest that SIX3 mutations result in a more severe phenotype than other gene mutations for holoprosencephaly. One patient had a double SIX3 mutation, which has not been reported previously. In our SIX3 mutations, three were transmitted by the paternal side, two were transmitted by the maternal side, and one was a de novo event. Mutations in normal parents with severe involvement of their offspring does not allow prediction of phenotypic severity, which makes genetic counseling difficult.
authors.affiliation: Laboratorio de Genetica Molecular do HRAC-USP, Bauru, SP, Brazil.
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Kenia B
authors.initials: KB
authors.lastname: El-Jaick
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D001938:Brazil; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D000097607:Homeobox Protein SIX3
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000097607:Homeobox Protein SIX3