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

Lucilene Arilho Ribeiro; Claudia Danielli Pereira Bertolacini; Rodrigo Gonçalves Quiezi; Antonio Richieri-Costa

doi:10.1097/MCD.0b013e32834116ae

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

Clin Dysmorphol. 2011 Jul;20(3):160-162. doi: 10.1097/MCD.0b013e32834116ae.

Authors

Lucilene Arilho Ribeiro¹, Claudia Danielli Pereira Bertolacini, Rodrigo Gonçalves Quiezi, Antonio Richieri-Costa

Affiliation

¹ Setor de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, USP/Bauru, Brazil.

PMID: 21368660
DOI: 10.1097/MCD.0b013e32834116ae

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Substitution / genetics
Brazil
Eye Proteins / genetics*
Female
Heterozygote*
Histiocytosis, Langerhans-Cell / complications*
Histiocytosis, Langerhans-Cell / diagnosis
Histiocytosis, Langerhans-Cell / genetics*
Holoprosencephaly / complications*
Holoprosencephaly / diagnosis
Holoprosencephaly / genetics*
Homeobox Protein SIX3
Homeodomain Proteins / genetics*
Humans
Magnetic Resonance Imaging
Mutation, Missense / genetics*
Nerve Tissue Proteins / genetics*
Phenotype

Substances

Eye Proteins
Homeodomain Proteins
Nerve Tissue Proteins