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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Autor: Tejada MI; Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Elcoroaristizabal X; Genetracer Biotech, Santander, Spain., Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Botella MP; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain., de la Hoz AB; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Ocio I; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.

Publikováno v: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. Date of Electronic Publication: 2018 Nov 20.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Autor: Codina-Solà M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Rodríguez-Santiago B; Quantitative Genomic Medicine Laboratories (qGenomics), C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain., Homs A; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Santoyo J; Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), C/Albert Einstein, Cartuja Scientific and Technology Park, INSUR Builiding, Sevilla, 41092 Spain., Rigau M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain., Aznar-Laín G; Pediatric Neurology, Hospital del Mar, Passeig Marítim 25-29, Barcelona, 08003 Spain., Del Campo M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain ; Servicio de Genética, Hospital Vall d'Hebron, Passeig Vall d'Hebron, 119-129, Barcelona, 08015 Spain., Gener B; Genetics Service, BioCruces Health Research Institute, Hospital Universitario Cruces, Plaza de Cruces 12, Barakaldo, Bizkaia 48093 Spain., Gabau E; Pediatrics Service, Corporació Sanitària Parc Taulí, Parc Taulí 1, Sabadell, 08208 Spain., Botella MP; Pediatric Neurology, Hospital de Txagorritxu, C/José de Atxotegui s/n, Victoria-Gasteiz, 01009 Spain., Gutiérrez-Arumí A; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Antiñolo G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain ; Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), C/Albert Einstein, Cartuja Scientific and Technology Park, INSUR Builiding, Sevilla, 41092 Spain ; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avda Manuel Siurot s/n, Sevilla, 41013 Spain., Pérez-Jurado LA; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Cuscó I; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain.

Publikováno v: Molecular autism [Mol Autism] 2015 Apr 15; Vol. 6, pp. 21. Date of Electronic Publication: 2015 Apr 15 (Print Publication: 2015).

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Autor: Rice GI; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2013 Dec; Vol. 12 (12), pp. 1159-69. Date of Electronic Publication: 2013 Oct 30.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Autor: Rice GI; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom., Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ

Publikováno v: Human mutation [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. Date of Electronic Publication: 2013 May 13.