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- DOI: 10.1002/ajmg.a.33620
- PMID: 20799324
- UKPMCID: 20799324
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A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
Haaxma, Charlotte A; Crow, Yanick J; van Steensel, Maurice A M; Lammens, Martin M Y; Rice, Gillian I; Verbeek, Marcel M; Willemsen, Michèl A A P
American journal of medical genetics. Part A. 2010;152A(10):2612-7.
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Full-text held externally
- DOI: 10.1002/ajmg.a.33620
- PMID: 20799324
- UKPMCID: 20799324
Abstract
Aicardi-Goutières syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutières 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-Goutières syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutières syndrome-with a concomitant low risk of recurrence.