Subject:
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DCN 1: Perception and Action DCN 2: Functional Neurogenomics DCN 3: Neuroinformatics IGMD 8: Mitochondrial medicine Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc |
Organization:
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Neurology Dermatology Pathology Laboratory of Genetic, Endocrine and Metabolic Diseases Human Genetics |
Journal title:
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American Journal of Medical Genetics. Part A
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Abstract:
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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.
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