A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.

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Title:	A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.
Author(s):	Haaxma, C.A. ; Crow, Y.J.; Steensel, M.A.M. van ; Lammens, M.M.Y. ; Rice, G.I.; Verbeek, M.M. ; Willemsen, M.H.
Publication year:	2010
Source:	American Journal of Medical Genetics. Part A, vol. 152A, iss. 10, (2010), pp. 2612-2617
ISSN:	1552-4825
DOI:	https://doi.org/10.1002/ajmg.a.33620
Annotation:	1 oktober 2010
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/89283
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Subject:	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:	Neurology Dermatology Pathology Laboratory of Genetic, Endocrine and Metabolic Diseases Human Genetics
Journal title:	American Journal of Medical Genetics. Part A
Volume:	vol. 152A
Issue:	iss. 10
Page start:	p. 2612
Page end:	p. 2617
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.