Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism
Journal
EBioMedicine
Journal Volume
71
Date Issued
2021-09
Author(s)
Lam, Wai-Yee
Tang, Clara Sze-Man
So, Man-Ting
Yue, Haibing
Chung, Patrick Ho-Yu
Nicholls, John M
Yeung, Fanny
Lee, Chun-Wai Davy
Ngo, Diem Ngoc
Nguyen, Pham Anh Hoa
Mitchison, Hannah M
Jenkins, Dagan
O'Callaghan, Christopher
Garcia-Barceló, Maria-Mercè
Lee, So-Lun
Sham, Pak-Chung
Lui, Vincent Chi-Hang
Tam, Paul Kwong-Hang
Abstract
Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (common form: > 85%) remains poorly defined.
Subjects
Biliary atresia; Cilia dysfunction; Rare variants; Whole exome sequencing
Publisher
ELSEVIER
Type
journal article