References
- Juberg RC, Marsidi I. A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism. Am J Hum Genet. 1980;32:714.
- Abidi FE, Cardoso C, Lossi A-M, Lowry RB, Depetris D, Mattéi M-G, Lubs HA, Stevenson RE, Fontes M, Chudley AE, et al. Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome. Eur J Hum Genet. 2005;13:176.
- Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W. Asplenia in ATR‐X syndrome: a second report. Am J Med Genet. 2005;139:37–9.
- Stevenson RE, Schwartz CE, Rogers RC. Atlas of X-linked intellectual disability syndromes. Oxford, UK: Oxford University Press; 2012. p. 17–19.
- Wada T, Sakakibara M, Fukushima Y, Saitoh S. A novel splicing mutation of the ATRX gene in ATR-X syndrome. Brain Dev. 2006;28:322–5.
- Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell. 1995;80:837–45.
- McKusick V. Online Mendelian inheritance in man, OMIM™. Baltimore: Johns Hopkins University. MIM Number:# 300032; 2016.
- Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, et al. The 1000 Genomes Project: data management and community access. Nat Methods. 2012;9:459.
- Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al. Aggregation, analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285.
- Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361. doi:10.1038/nmeth.2890.
- Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucl Acids Res. 2012;40:W452–7. doi:10.1093/nar/gks539.
- Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248. doi:10.1038/nmeth0410-248.
- McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, et al. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci USA. 1999;96:13983–8.
- Consortium U. UniProt: a worldwide hub of protein knowledge. Nucl Acids Res. 2018;47:D506–15.
- Nan X, Hou J, Maclean A, Nasir J, Lafuente MJ, Shu X, Kriaucionis S, Bird A. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci USA. 2007;104:2709–14. doi:10.1073/pnas.0608056104.
- Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucl Acids Res. 2014;42:D980–5.
- Gibbons R. Alpha thalassaemia-mental retardation, X linked. Orphanet J Rare Dis. 2006;1:15. doi:10.1186/1750-1172-1-15.
- Gibbons RJ, Higgs DR. Molecular–clinical spectrum of the ATR‐X syndrome. Am J Med Genet. 2000;97:204–12.
- Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. Holmes‐Gang syndrome is allelic with XLMR‐hypotonic face syndrome. Am J Med Genet. 2000;94:383–5. doi:10.1002/1096-8628(20001023)94:5<383::AID-AJMG7>3.0.CO;2-7.