@article{654279092e49426a9afbd9405c511079,
title = "Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders",
abstract = "Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number. HαT affects 5% to 7% of Western populations and has been associated with joint hypermobility. Hypermobility disorders are likewise frequently AD, but genetic etiologies are often elusive. Genotyping of individuals with hypermobility spectrum disorder (n = 132), hypermobile Ehlers-Danlos syndrome (n = 78), or axial skeletal abnormalities with hypermobility (n = 56) was performed. Clinical features of individuals with and without HαT were compared. When analyzing our combined cohorts, dysphagia (p = 0.007) and retained primary dentition (p = 0.0003) were significantly associated with HαT, while positive associations with anaphylaxis (p = 0.07) and pruritus (P = 0.5) did not reach significance likely due to limited sample size. Overall, HαT prevalence is not increased in individuals with hypermobility disorders, rather linked to a unique endotype, demonstrating how HαT may modify clinical presentations of complex patients.",
keywords = "EDS, HSD, HaT, TPSAB1, alpha-tryptase, connective tissue",
author = "Maribel Vazquez and Jack Chovanec and Jiwon Kim and Thomas DiMaggio and Milner, {Joshua D.} and Francomano, {Clair A.} and Gurnett, {Christina A.} and Marco Ritelli and Marina Colombi and Lyons, {Jonathan J.}",
note = "Funding Information: This research was supported by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, NIH and by the National Institute of Arthritis and Musculoskeletal Disease (R01AR067715). The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. government. The authors declare no competing interests. Funding Information: This research was supported by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases , NIH and by the National Institute of Arthritis and Musculoskeletal Disease ( R01AR067715 ). The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. government. Publisher Copyright: {\textcopyright} 2022",
year = "2022",
month = apr,
day = "14",
doi = "10.1016/j.xhgg.2022.100094",
language = "English (US)",
volume = "3",
journal = "Human Genetics and Genomics Advances",
issn = "2666-2477",
publisher = "Cell Press",
number = "2",
}