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

doi:10.1002/ajmg.a.33620

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 journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	2612-2617
Journal	American Journal of Medical Genetics Part A
Volume	152A
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.33620
Publication status	Published - Oct 2010

Keywords

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

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

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. ",

keywords = "Aicardi-Goutieres syndrome, TREX1, IFN-alpha, chilblains, basal ganglia calcifications",

author = "Haaxma, \{Charlotte A.\} and Crow, \{Yanick J.\} and \{van Steensel\}, \{Maurice A. M.\} and Lammens, \{Martin M. Y.\} and Rice, \{Gillian I.\} and Verbeek, \{Marcel M.\} and Willemsen, \{Michel A. A. P.\}",

year = "2010",

month = oct,

doi = "10.1002/ajmg.a.33620",

language = "English",

volume = "152A",

pages = "2612--2617",

journal = "American Journal of Medical Genetics Part A",

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

number = "10",

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TY - JOUR

T1 - A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome

AU - Haaxma, Charlotte A.

AU - Crow, Yanick J.

AU - van Steensel, Maurice A. M.

AU - Lammens, Martin M. Y.

AU - Rice, Gillian I.

AU - Verbeek, Marcel M.

AU - Willemsen, Michel A. A. P.

PY - 2010/10

Y1 - 2010/10

N2 - 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.

AB - 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.

KW - Aicardi-Goutieres syndrome

KW - TREX1

KW - IFN-alpha

KW - chilblains

KW - basal ganglia calcifications

U2 - 10.1002/ajmg.a.33620

DO - 10.1002/ajmg.a.33620

M3 - Article

C2 - 20799324

SN - 1552-4825

VL - 152A

SP - 2612

EP - 2617

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 10

ER -

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

Abstract

Keywords

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