Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Author:

Monteiro Fabiola P.,Curry Cynthia J.,Hevner Robert,Elliott StephenORCID,Fisher Jamie H.,Turocy John,Dobyns William B.ORCID,Costa Larissa A.,Freitas Erika,Kitajima João Paulo,Kok Fernando

Funder

Institute of Biological Sciences at University of São Paulo (USP)

INRAD

University of São Paulo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference29 articles.

1. Arthrogryposis: a review and update;Bamshad;J Bone Joint Surg Am,2009

2. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2;De Fusco;Nat. Genet.,2003

3. ATP1A2 mutations in migraine: seeing through the facets of an ion pump onto the neurobiology of disease;Friedrich;Front. Physiol.,2016

4. GnomAD Browser Beta - Available at: http://gnomad.broadinstitute.org/ and ExAC Browser - Available at http://exac.broadinstitute.org/. Searched for http://gnomad.broadinstitute.org/variant/1-160105073-ATG-A and http://gnomad.broadinstitute.org/variant/1-160097427-GC-G, in May, 5th 2018. Based on the work by Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG

5. Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 18;536(7616):285-291. doi: 10.1038/nature19057.

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