期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 10, 页码 2612-2617出版社
WILEY
DOI: 10.1002/ajmg.a.33620
关键词
Aicardi-Goutieres syndrome; TREX1; IFN-alpha; chilblains; basal ganglia calcifications
资金
- KWF [UM2009-4352]
- GROW School for Oncology and Developmental Biology
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. (C) 2010 Wiley-Liss, Inc.
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