A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis

Autor(es)

Ribeiro, Lucilene Arilho ^[1] ; Pereira Bertolacini, Claudia Danielli ^[1] ; Quiezi, Rodrigo Goncalves ^[1] ; Richieri-Costa, Antonio ^[1]

Afiliação do(s) autor(es)

^[1] USP Bauru, Hosp Reabilitacao Anomalias Craniofaciais, Setor Genet, Bauru, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CLINICAL DYSMORPHOLOGY; v. 20, n. 3, p. 160-162, JUL 2011.
• Citações Web of Science: 1

Resumo

Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was predicted as damaged by the PolyPhen program. We discuss the clinical and genetic aspects of this unusual case. Clin Dysmorphol 20:160-162 (C) 2011 Wolters Kluwer Health | Lippincott Williams \& Wilkins. (AU)

• Processo FAPESP: 06/60973-9 - Analise mutacional dos genes shh, tgif, six3, zic2, ptch e gli2 nas anomalias craniofaciais e alteracoes do desenvolvimento do sistema nervoso central.
• Beneficiário: Lucilene Arilho Ribeiro Bicudo
• Modalidade de apoio: Auxílio à Pesquisa - Regular