Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
| Autor: | Qiyuan Li, Cuili Yi, Jihong Xiao |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
lcsh:Diseases of the musculoskeletal system Case Report Aicardi-Goutières syndrome 030207 dermatology & venereal diseases 0302 clinical medicine Lupus Erythematosus Cutaneous Immunology and Allergy Medicine Exome sequencing Sanger sequencing Familial chilblain lupus lcsh:RJ1-570 CHILBLAIN LUPUS Pedigree Chilblains Child Preschool Mutation (genetic algorithm) symbols Female Novel mutation Adult China Heterozygote medicine.medical_specialty TREX1 Mutation Missense Nervous System Malformations 03 medical and health sciences symbols.namesake Autoimmune Diseases of the Nervous System Systemic lupus erythematosus Asian People Rheumatology Internal medicine Exome Sequencing Humans 030203 arthritis & rheumatology Chinese business.industry Infant lcsh:Pediatrics Phosphoproteins medicine.disease Dermatology Sting Exodeoxyribonucleases Mutation Pediatrics Perinatology and Child Health Aicardi–Goutières syndrome lcsh:RC925-935 business |
| Zdroj: | Pediatric Rheumatology Online Journal, Vol 18, Iss 1, Pp 1-7 (2020) Pediatric Rheumatology Online Journal |
| ISSN: | 1546-0096 |
| DOI: | 10.1186/s12969-020-00423-y |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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