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 -