Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants

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.

CAS  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

Article  PubMed  CAS  Google Scholar 

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