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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

  • Published:2024-03 Issue:3 Volume:143 Page:279-291
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum. Genet.

Author:

Brooks Daniel,Burke Elizabeth,Lee SukyeongORCID,Eble Tanya N.,O’Leary MelanieORCID,Osei-Owusu IkeoluwaORCID,Rehm Heidi L.ORCID,Dhar Shweta U.ORCID,Emrick Lisa,Bick DavidORCID,Nehrebecky Michelle,Macnamara Ellen,Casas-Alba DídacORCID,Armstrong JudithORCID,Prat CarolinaORCID,Martínez-Monseny Antonio F.ORCID,Palau FrancescORCID,Liu PengfeiORCID,Adams David, ,Lalani Seema,Rosenfeld Jill A.ORCID,Burrage Lindsay C.ORCID

Funder

National Institutes of Health

National Human Genome Research Institute

Chan Zuckerberg Initiative

SJD Translational Diagnostics & Therapy Program

CIBERER grant

Horizon Europe

Burroughs Wellcome Fund

National Institutes of Health grant

Publisher

Springer Science and Business Media LLC

Reference36 articles.

1. Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC (2012) Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat 33:599–608. https://doi.org/10.1002/humu.22035

2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248

3. Ahmad I, Khan A, Noor Ul Ayan H, Budde B, Altmuller J, Korejo AA, Nurnberg G, Thiele H, Tariq M, Nurnberg P, Erdmann J (2023) A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J Hum Genet 68:107–109. https://doi.org/10.1038/s10038-022-01085-2

4. Chang Y, Lu X, Shibu MA, Dai YB, Luo J, Zhang Y, Li Y, Zhao P, Zhang Z, Xu Y, Tu ZC, Zhang QW, Yun CH, Huang CY, Ding K (2017) Structure based design of N-(3-((1H-Pyrazolo[3,4-b]pyridin-5-yl)ethynyl)benzenesulfonamides as selective leucine-zipper and sterile-alpha motif kinase (ZAK) inhibitors. J Med Chem 60:5927–5932. https://doi.org/10.1021/acs.jmedchem.7b00572

5. Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alfoldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, C. Genome Aggregation Database, O’Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ (2024) A genomic mutational constraint map using variation in 76,156 human genomes. Nature 625:92–100. https://doi.org/10.1038/s41586-023-06045-0
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