SIX3 mutations with holoprosencephaly
| Autor: | Maximilian Muenke, Kenia B. El-Jaick, Lucilene Arilho Ribeiro, Antonio Richieri-Costa |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Offspring Genetic counseling DNA Mutational Analysis Mutation Missense Nerve Tissue Proteins Gene mutation Biology medicine.disease_cause Frameshift mutation Holoprosencephaly Genetics medicine Missense mutation Humans Eye Proteins Frameshift Mutation Genetics (clinical) Homeodomain Proteins Mutation Brain Infant medicine.disease Phenotype Magnetic Resonance Imaging Radiography Female sense organs Brazil |
| Zdroj: | American journal of medical genetics. Part A. 140(23) |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text