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SIX3 mutations with holoprosencephaly

Ribeiro, L.Arilho.; El-Jaick, K.B.; Muenke, M.; Richieri-Costa, A.

American Journal of Medical Genetics. Part a 140(23): 2577-2583

2006


ISSN/ISBN: 1552-4825
PMID: 17001667
DOI: 10.1002/ajmg.a.31377
Accession: 012885952

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.

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