Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

ABSTRACT: Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum le

SUBMITTER: Lyons JJ 

PROVIDER: S-EPMC5397297 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature