Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
| Autor: | Wei Xiao, Jie Feng, Hongyu Long, Zhaohui H Luo, Bo Xiao |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Singleton Merten syndrome endocrine system diseases Case Report Disease Aicardi-Goutières syndrome QH426-470 Bioinformatics 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine medicine Genetics Genetics (clinical) IFIH1 Dystonia IFIH1 Gene Psychomotor retardation business.industry Genetic heterogeneity autoimmunity medicine.disease 030104 developmental biology Singleton-Merten syndrome Mutation (genetic algorithm) Molecular Medicine Aicardi–Goutières syndrome medicine.symptom business type I IFN |
| Zdroj: | Frontiers in Genetics, Vol 12 (2021) Frontiers in Genetics |
| ISSN: | 1664-8021 |
| DOI: | 10.3389/fgene.2021.660953/full |
| Popis: | The IFIH1 gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional change in a single gene can cause so many different phenotypes remain unknown. Moreover, there is significant controversy as to whether these distinct phenotypes represent the same disease continuum or mutation-specific disorders. Here, we describe the case of a patient with a novel c.1465G > T (p.Ala489Ser) mutation in the IFIH1 gene. The patient presented with spastic paraplegia, dystonia, psychomotor retardation, joint deformities, intracranial calcification, abnormal dentition, characteristic facial features, lymphadenopathy, and autoimmunity. His phenotype appeared to represent an overlap of the phenotypes for AGS and SMS. The patient also experienced unexplained pancytopenia, suggesting that the hemic system may have been affected by a gain-of-function mutation in the IFIH1 gene. In summary, we provide further evidence that SMS and AGS exhibit the same disease spectrum following a gain-of-function mutation in the IFIH1 gene. Our data highlight the genetic heterogeneity of these conditions and expand our knowledge of differential phenotypes created by IFIH1 gain-of-function mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|