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Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.

Abstract：

BACKGROUND:Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families have been described in the literature. CASE PRESENTATION:Genetic study was performed in a large, nonconsanguineous Chinese family with 13 members over 4 generations affected by chilblain lupus. Whole exome sequencing was performed for the index patient. Significant variant detection was subsequently validated by resequencing using Sanger sequencing in the index patient and other family members. A novel pathogenic mutation TREX1 p.Asp18His was iditified in the index patient. The mutation was present in affected individuals and was absent in non-affected individuals in the familiy. CONCLUSIONS:We present a four-generation Chinese family with FCL caused by a novel heterozygous mutation TREX1 p.Asp18His, which had been reported in a patient with Aicardi-Goutie'res syndrome. This is the first reported Chinese family with FCL based on mutation in TREX1.

journal_name

Pediatr Rheumatol Online J

journal_title

Pediatric rheumatology online journal

authors

Yi C,Li Q,Xiao J

doi

10.1186/s12969-020-00423-y

subject

Has Abstract

pub_date

2020-04-15 00:00:00

pages

32

issue

1

issn

1546-0096

pii

10.1186/s12969-020-00423-y

journal_volume

18

pub_type

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