title: Variable phenotypic manifestations of a K44N mutation in the TGIF gene.
abstract: The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF. This boy presented a p.K44N (c.132G>T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed.
authors.affiliation: Departamento de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchioni 320, CEP 17012-900, Bauru, SP, Brazil. richieri@usp.br
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
mesh_terms: D001216:Asparagine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D016142:Holoprosencephaly / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*