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De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder

Abstract:

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2018.04.014

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; Weatherall Insti. of Molecular Medicine
Role:
Author
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Institution:
University of Oxford
Division:
MPLS Division
Department:
Engineering Science
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Clinical Laboratory Sciences
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Clinical Laboratory Sciences
Role:
Author
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French Ministry of Health More from this funder
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Grant:
Weatherall Institute of Molecular Medicine Strategic Alliance (G0902418, MC_UU_12025
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Grant:
Oxford Biomedical Research Centre Programme (A.O.M.W.
Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
102
Issue:
6
Pages:
1195-1203
Publication date:
2018-05-31
Acceptance date:
2018-04-26
DOI:
ISSN:
0002-9297
Source identifiers:
846588
Keywords:
Pubs id:
pubs:846588
UUID:
uuid:727c7857-43b2-405e-86b9-6cfb235b5e78
Local pid:
pubs:846588
Deposit date:
2018-05-08

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