Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 140A, Issue 23, Pages 2577-2583Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31377
Keywords
missense mutations; frameshift mutations; double mutation; severe phenotype
Categories
Ask authors/readers for more resources
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 imitations 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 m 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. (c) 2006 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available