Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)
Abstract Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS). However, somatic mosaicism may be particularly important in adult‐onset or...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.791 |
| _version_ | 1798016766792695808 |
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| author | Apostolos Kontzias Samaneh K. Zarabi Cassandra Calabrese Yan Wang LuAnn Judis QingPing Yao Yu‐Wei Cheng |
| author_facet | Apostolos Kontzias Samaneh K. Zarabi Cassandra Calabrese Yan Wang LuAnn Judis QingPing Yao Yu‐Wei Cheng |
| author_sort | Apostolos Kontzias |
| collection | DOAJ |
| description | Abstract Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS). However, somatic mosaicism may be particularly important in adult‐onset or atypical phenotypes of these conditions. Herein, we report a unique adult‐onset TRAPS patient presenting with intermittent daily fever for 3 weeks, rash, peritonitis, and lymphadenopathy, who was found with hematopoietic mosaicism involving different white blood cell populations. Methods Patient's lymphocyte genomic DNA was initially analyzed by periodic fever seven‐gene next‐generation sequencing panel. Genomic DNAs extracted from patient's hair roots, buccal swab, and subpopulations of white blood cells were subsequently examined on the identified TNFRSF1A variant using Sanger sequencing. Results A de novo mosaic missense variant, c.265 T>C(p.Phe89Leu), in the TNFRSF1A gene was found in the patient's buccal swab, B cells, neutrophils, and NK cells but not detected in monocytes, T cells, and hair roots. Conclusion These data provide additional information about somatic mosaicism in autoinflammatory conditions and provide new insights regarding cellular players that are indispensable for the phenotypic expression of TRAPS. |
| first_indexed | 2024-04-11T15:54:58Z |
| format | Article |
| id | doaj.art-a63aeb1a67e3465da7970403cc35d133 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-11T15:54:58Z |
| publishDate | 2019-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-a63aeb1a67e3465da7970403cc35d1332022-12-22T04:15:11ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-08-0178n/an/a10.1002/mgg3.791Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)Apostolos Kontzias0Samaneh K. Zarabi1Cassandra Calabrese2Yan Wang3LuAnn Judis4QingPing Yao5Yu‐Wei Cheng6Department of Rheumatology Stony Brook University Hospital Stony Brook New YorkDepartment of Pathology Stony Brook University Hospital Stony Brook New YorkDepartment of Rheumatology Cleveland Clinic Cleveland OhioGenomics Core Lerner Research Institute Cleveland Clinic Cleveland OhioDepartment of Laboratory Medicine Cleveland Clinic Cleveland OhioDepartment of Rheumatology Stony Brook University Hospital Stony Brook New YorkGenomics Core Lerner Research Institute Cleveland Clinic Cleveland OhioAbstract Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS). However, somatic mosaicism may be particularly important in adult‐onset or atypical phenotypes of these conditions. Herein, we report a unique adult‐onset TRAPS patient presenting with intermittent daily fever for 3 weeks, rash, peritonitis, and lymphadenopathy, who was found with hematopoietic mosaicism involving different white blood cell populations. Methods Patient's lymphocyte genomic DNA was initially analyzed by periodic fever seven‐gene next‐generation sequencing panel. Genomic DNAs extracted from patient's hair roots, buccal swab, and subpopulations of white blood cells were subsequently examined on the identified TNFRSF1A variant using Sanger sequencing. Results A de novo mosaic missense variant, c.265 T>C(p.Phe89Leu), in the TNFRSF1A gene was found in the patient's buccal swab, B cells, neutrophils, and NK cells but not detected in monocytes, T cells, and hair roots. Conclusion These data provide additional information about somatic mosaicism in autoinflammatory conditions and provide new insights regarding cellular players that are indispensable for the phenotypic expression of TRAPS.https://doi.org/10.1002/mgg3.791autoinflammatorymosaicismTRAPS |
| spellingShingle | Apostolos Kontzias Samaneh K. Zarabi Cassandra Calabrese Yan Wang LuAnn Judis QingPing Yao Yu‐Wei Cheng Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) Molecular Genetics & Genomic Medicine autoinflammatory mosaicism TRAPS |
| title | Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) |
| title_full | Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) |
| title_fullStr | Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) |
| title_full_unstemmed | Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) |
| title_short | Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS) |
| title_sort | somatic mosaicism in adult onset tnf receptor associated periodic syndrome traps |
| topic | autoinflammatory mosaicism TRAPS |
| url | https://doi.org/10.1002/mgg3.791 |
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