Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Nat Genet 44:254-6 (2012)
DOI:10.1038/ng.1077

Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Neurology 80:181-7 (2013)
DOI:10.1212/WNL.0b013e31827ccf34

Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Nat Genet 45:1077-82 (2013)
DOI:10.1038/ng.2723

Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Nat Genet 47:579-81 (2015)
DOI:10.1038/ng.3289

Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V

MYORG is associated with recessive primary familial brain calcification.

Ann Clin Transl Neurol 6:106-113 (2019)
DOI:10.1002/acn3.684

Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G, Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Am J Hum Genet 106:412-421 (2020)
DOI:10.1016/j.ajhg.2020.02.007

Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervag A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund AK, Caiella A, Glomnes N, Bronstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, Ipek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gomez-Pascual A, Botia JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, Arnesen T, Houlden H

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Nat Commun 15:2269 (2024)
DOI:10.1038/s41467-024-46354-0