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

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.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Ribeiro LA,Bertolacini CD,Quiezi RG,Richieri-Costa A

doi

10.1097/MCD.0b013e32834116ae

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

160-2

issue

3

eissn

0962-8827

issn

1473-5717

journal_volume

20

pub_type

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