Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome

Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. We report here on a unique family in which CTS occurred in subsequent generations at an unusually young age. Additional clinical features included brachydactyly and short Achilles tendons. We identified a novel heterozygous variant (p.Phe1670Cys) in FBN2 as the cause of disease in this family. A variant burden test in a large cohort of sporadic CTS patients revealed a significantly increased frequency of rare and high-impact FBN2 variants in patient alleles compared to controls. These findings strongly suggest a role of FBN2 in the pathogenesis of CTS. (By Dr. Silke Peeters, https://jmg.bmj.com/content/early/2020/09/07/jmedgenet-2020-107085 )

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