Abstract
Aicardi-Goutieres syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutieres syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutieres syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutieres syndrome with a concomitant low risk of recurrence.
Original language | English |
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Pages (from-to) | 2612-2617 |
Journal | American Journal of Medical Genetics Part A |
Volume | 152A |
Issue number | 10 |
DOIs | |
Publication status | Published - Oct 2010 |
Keywords
- Aicardi-Goutieres syndrome
- TREX1
- IFN-alpha
- chilblains
- basal ganglia calcifications