Open AccessVariants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Author(s) -
Jodie Ouahed,
Judith R. Kelsen,
Waldo Spessott,
Kameron Kooshesh,
Maria L. Sanmillan,
Noor Dawany,
Kathleen E. Sullivan,
Kathryn E. Hamilton,
Voytek Slowik,
Sergey Nejentsev,
João Farela Neves,
Helena Flores,
Wendy K. Chung,
Ashley Wilson,
Kwame AnyaneYeboa,
Karen Wou,
Preti Jain,
Michael Field,
Sophia Tollefson,
Maiah H. Dent,
Dalin Li,
Takeo Naito,
Dermot P. McGovern,
Andrew C. Kwong,
Faith Taliaferro,
José Ordovás-Montañés,
Bruce Horwitz,
Daniel Kotlarz,
Christoph Klein,
Jonathan Evans,
Jill Dorsey,
Neil Warner,
Abdul Elkadri,
Aleixo M. Muise,
Jeffrey D. Goldsmith,
Benjamin Thompson,
Karin R. Engelhardt,
Andrew J. Cant,
Sophie Hambleton,
Andrew Barclay,
Ágnes Tóth-Petróczy,
Dana Vuzman,
Nikkola Carmichael,
Corneliu Bodea,
Christopher A. Cassa,
Marcella Devoto,
Richard L. Maas,
Edward M. Behrens,
Claudio G. Giraudo,
Scott B. Snapper
Publication year - 2021
Publication title -
journal of crohn's and colitis
Language(s) - English
Resource type - Journals
eISSN - 1876-4479
pISSN - 1873-9946
DOI - 10.1093/ecco-jcc/jjab077
Subject(s) - immune dysregulation , sensorineural hearing loss , exome sequencing , hearing loss , immunology , medicine , inflammatory bowel disease , sanger sequencing , immune system , disease , biology , genetics , mutation , gene , audiology
Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation.