Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, et al. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019;21:2713–22.
Article PubMed PubMed Central CAS Google Scholar
Ferraz MK, Esposito AC, Schmidt C, Lima MA, Vargas FR. Correspondence on ‘Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect’ by Nizon et al. Genet Med J Am Coll Med Genet. 2022;24:2204–5.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
Article PubMed PubMed Central Google Scholar
Foreman J, Perrett D, Mazaika E, Hunt SE, Ware JS, Firth HV. DECIPHER: improving genetic diagnosis through dynamic integration of genomic and clinical data. Annu Rev Genomics Hum Genet. 2023;24:151–76.
Article PubMed PubMed Central CAS Google Scholar
Graham JM, Schwartz CE. MED12 related disorders. Am J Med Genet A. 2013;161A:2734–40.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022;185:3041–55.e25.
Article PubMed PubMed Central CAS Google Scholar
Epanchintsev A, Costanzo F, Rauschendorf M-A, Caputo M, Ye T, Donnio L-M, et al. Cockayne’s syndrome A and B proteins regulate transcription arrest after genotoxic stress by promoting ATF3 degradation. Mol Cell. 2017;68:1054–66.e6.
Article PubMed CAS Google Scholar
Risheg H, Graham JM, Clark RD, Rogers RC, Opitz JM, Moeschler JB, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39:451–3.
Article PubMed CAS Google Scholar
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007;44:472–7.
Article PubMed PubMed Central CAS Google Scholar
Vulto-van Silfhout AT, de Vries BBA, van Bon BWM, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92:401–6.
Article PubMed PubMed Central CAS Google Scholar
Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37:829–34.
Article PubMed CAS Google Scholar
Salzer U, Chapel HM, Webster ADB, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37:820–8.
Article PubMed CAS Google Scholar
Martinez-Gallo M, Radigan L, Almejún MB, Martínez-Pomar N, Matamoros N, Cunningham-Rundles C. TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. J Allergy Clin Immunol. 2013;131:468–76.
Comments (0)