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Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing
Author(s) -
Tran Ngoc Hieu,
Nguyen Thi ThanhHuong,
Tang HungSang,
Hoang LePhuc,
Nguyen TrungHieu Le,
Tran NhatThang,
Trinh ThuHuong Nhat,
Nguyen Van Thong,
Nguyen BaoHan Huu,
Nguyen Hieu Trong,
Doan Loc Phuoc,
Phan NgocMinh,
Nguyen KimHuong Thi,
Nguyen HongDang Luu,
Quach MinhTam Thi,
Nguyen ThanhPhuong Thi,
Tran Vu Uyen,
Tran DinhVinh,
Nguyen QuynhTho Thi,
Do ThanhThuy Thi,
Lam Nien Vinh,
Cao Thi Ngoc Phuong,
Truong Dinh Kiet,
Nguyen HoaiNghia,
Phan MinhDuy,
Giang Hoa
Publication year - 2021
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24253
Subject(s) - vietnamese , biology , exome sequencing , population , genetics , exome , disease , gene , medicine , mutation , environmental health , philosophy , linguistics
Accurate profiling of population‐specific recessive diseases is essential for the design of cost‐effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease‐associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2–12 times higher than in the world populations, including beta‐thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost‐effective carrier screening programs specific to the Vietnamese population.