A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome

Charlotte A. Haaxma, Yanick J. Crow, Maurice A. M. van Steensel, Martin M. Y. Lammens, Gillian I. Rice, Marcel M. Verbeek, Michel A. A. P. Willemsen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

28 Citations (Web of Science)


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 languageEnglish
Pages (from-to)2612-2617
JournalAmerican Journal of Medical Genetics Part A
Issue number10
Publication statusPublished - Oct 2010


  • Aicardi-Goutieres syndrome
  • TREX1
  • IFN-alpha
  • chilblains
  • basal ganglia calcifications

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