Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis - 18/12/23
Doi : 10.1016/j.pediatrneurol.2023.10.008
Zimeng Ye, MSc a, 1, Sufang Lin, MD b, 1, Xia Zhao, MD b, 1, Mathew Wallis, MBBS c, d, e, f, Xinyi Gao, MBBS g, Li Sun, MSc g, Jiarui Wu, MSc g, Jing Duan, MSc b, Yi Yao, MD b, Lin Li, MD, PhD b, Li Chen, MD b, Dezhi Cao, MD, PhD b, Zhanqi Hu, MD, PhD b, Victor W. Zhang, MD, PhD g, Samuel F. Berkovic, MD a, f, Ingrid E. Scheffer, MBBS, PhD a, f, h, i, j, ⁎, 1 
, Jianxiang Liao, MD, PhD b, ⁎, 1 , Michael S. Hildebrand, PhD a, f, h, ⁎, 1
, Jianxiang Liao, MD, PhD b, ⁎, 1 , Michael S. Hildebrand, PhD a, f, h, ⁎, 1 a Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia
b Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China
c Tasmania Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia
d School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
e Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia
f Austin Health, Heidelberg, Victoria, Australia
g AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China
h Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
i Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
j The Florey Institute, Parkville, Victoria, Australia
∗Communications should be addressed to: Prof. Liao; Department of Neurology; Epilepsy Centre; Shenzhen Children's Hospital; 7019 Yitian Road, Futian District; Shenzhen, Guangdong Province 518038, China.Department of NeurologyEpilepsy CentreShenzhen Children's Hospital7019 Yitian RoadFutian DistrictShenzhenGuangdong Province518038China∗∗Prof. Hildebrand; Department of Medicine; Epilepsy Research Centre; University of Melbourne; 245 Burgundy St.; Heidelberg, Victoria 3084, Australia.Department of MedicineEpilepsy Research CentreUniversity of Melbourne245 Burgundy St.HeidelbergVictoria3084Australia∗∗∗Prof. Scheffer; Department of Medicine; Epilepsy Research Centre; University of Melbourne; 245 Burgundy St.; Heidelberg, Victoria 3084, Australia.Department of MedicineEpilepsy Research CentreUniversity of Melbourne245 Burgundy St.HeidelbergVictoria3084Australia
Keywords : Exome sequencing, Variant interpretation, Mosaicism, Recurrence risk, Tuberous sclerosis complex
| Author contributions: Z.Y., S.L., X.Z., M.W., V.W.Z., S.F.B., I.E.S., J.L., and M.S.H made substantial contributions to the conception or design of the work. Z.Y., S.L., X.Z., M.W., X.G., L.S., J.W., J.D., Y.Y., L.L., L.C., D.C., Z.H., V.W.Z., S.F.B., I.E.S., J.L., and M.S.H. contributed to acquisition, analysis, or interpretation of data for the work. Z.Y., S.L., X.Z., M.W., X.G., L.S., J.W., J.D., Y.Y., L.L., L.C., D.C., Z.H., V.W.Z., S.F.B., I.E.S., J.L., and M.S.H. contributed to drafting the work or revising it critically for important intellectual content. Z.Y., S.L., X.Z., M.W., X.G., L.S., J.W., J.D., Y.Y., L.L., L.C., D.C., Z.H., V.W.Z., S.F.B., I.E.S., J.L., and M.S.H. contributed to final approval of the version to be published. Z.Y., S.L., X.Z., M.W., X.G., L.S., J.W., J.D., Y.Y., L.L., L.C., D.C., Z.H., V.W.Z., S.F.B., I.E.S., J.L., and M.S.H. agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Z.Y., S.L., X.Z., I.E.S., J.L., and M.S.H confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. |
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| Data availability statement: Data available on reasonable request due to privacy/ethical restrictions. |
© 2023
The Authors. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 150
P. 37-39 - janvier 2024 Retour au numéro
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