Back to Search
Start Over
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
- Source :
- Journal of Medical Genetics. 57:505-508
- Publication Year :
- 2019
- Publisher :
- BMJ, 2019.
-
Abstract
- Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1 and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency (CMMRD) syndrome. In addition to a very high tumour risk, the CMMRD phenotype is often characterised by the presence of signs reminiscent of neurofibromatosis type 1. Although paediatric systemic lupus erythematosus (pSLE) has been reported so far in three patients with CMMRD, it has not been considered a diagnostic feature of the syndrome. We report here two additional female patients with pSLE and CMMRD due to biallelic pathogenic variants in MSH6. Hence, there are a total of five out of approximately 200 (2.5%) currently reported patients with CMMRD that also have pSLE, suggesting pSLE should raise the suspicion of a diagnosis of CMMRD, especially if supported by additional indicative features
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Neurofibromatosis 1
Childhood cancer
MLH1
DNA Mismatch Repair
Pediatrics
03 medical and health sciences
0302 clinical medicine
Neoplastic Syndromes, Hereditary
Genetics
PMS2
Humans
Lupus Erythematosus, Systemic
Medicine
Neurofibromatosis
Child
Genetics (clinical)
Brain Neoplasms
business.industry
medicine.disease
Dermatology
DNA-Binding Proteins
MSH6
Phenotype
030104 developmental biology
MSH2
Child, Preschool
030220 oncology & carcinogenesis
Mutation
MISMATCH REPAIR DEFICIENCY
Female
DNA mismatch repair
Colorectal Neoplasms
business
Subjects
Details
- ISSN :
- 14686244 and 00222593
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....657e0136d16bfd88d4b546590f652a0f
- Full Text :
- https://doi.org/10.1136/jmedgenet-2019-106303