title: A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
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.
authors.affiliation: Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Charlotte A
authors.initials: CA
authors.lastname: Haaxma
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: Martin M Y
authors.initials: MM
authors.lastname: Lammens
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.forename: Marcel M
authors.initials: MM
authors.lastname: Verbeek
authors.forename: Michèl A A P
authors.initials: MA
authors.lastname: Willemsen
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D010750:Phosphoproteins; D011506:Proteins; D001224:Aspartic Acid; D001216:Asparagine; D004247:DNA; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1