Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

Abstract Background VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier activating enzyme 1 (UBA1) in Xp11.3. Germline pathoge...

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Bibliographic Details
Main Authors: Matheus V. M. B. Wilke, Eva Morava-Kozicz, Matthew J. Koster, Christopher T. Schmitz, Shannon Kaye Foster, Mrinal Patnaik, Kenneth J. Warrington, Eric W. Klee, Filippo Pinto e Vairo
Format: Article
Language:English
Published: BMC 2022-08-01
Series:BMC Rheumatology
Subjects:
VEXAS syndrome
Variant allele frequency
X-Linked spinal muscular atrophy 2
Case report
Online Access:https://doi.org/10.1186/s41927-022-00281-z

Internet

https://doi.org/10.1186/s41927-022-00281-z

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