Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)

التفاصيل البيبلوغرافية
العنوان:	Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
المؤلفون:	Martín Nalda, Andrea, Cueto Gonzalez, Anna Maria, Argudo-Ramírez, Ana, Colobran Oriol, Roger, Plaja Rustein, Alberto, Castells Sarret, Neus, Rivière, Jacques, Tizzano Ferrari, Eduardo Fidel, Soler Palacín, Pere, Marin Soria, José Luis, Martínez Gallo, Mónica
المساهمون:	Martin-Nalda A, Riviere J, Soler-Palacin P Unitat de Malalties Infeccioses Pediàtriques i Immunodeficiències, Servei de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Cueto-González AM, Plaja A, Castells N Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Argudo-Ramírez A, Marin-Soria JL Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain. Martinez-Gallo M Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Colobran R Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Tizzano EF Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر:	Scientia
بيانات النشر:	Wiley Online Library
سنة النشر:	2019
مصطلحات موضوعية:	Cribatge genètic, Síndromes de deficiència immunitària en els infants - Catalunya, Síndrome de DiGeorge - Catalunya, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Abnormalities, Multiple::22q11 Deletion Syndrome::Congenital, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Congenital, and Neonatal Diseases and Abnormalities::DiGeorge Syndrome, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Primary Immunodeficiency Diseases::Severe Combined Immunodeficiency, Other subheadings::Other subheadings::/methods, Catalonia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías múltiples::síndrome de deleción 22q11::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::síndrome de DiGeorge, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades del recién nacido::inmunodeficiencia combinada grave, Otros calificadores::Otros calificadores::/métodos, Cataluña
الوصف:	22q11.2 deletion; Newborn screening; Severe combined immunodeficiencye ; Deleción 22q11.2; Examen de recién nacidos; Inmunodeficiencia combinada grave ; Supressió 22q11.2; Cribratge de nounats; Immunodeficiència combinada greu ; Background: The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are detected. Methods: We present our experience with the detection of 22q11.2 deletion syndrome and 22q11.2 duplication syndrome in a series of 103,903 newborns included in the newborn screening program of Catalonia (Spain). Results: Thirty newborns tested were positive (low TREC levels) and five were found to have copy number variations at the 22q11 region (4 deletions and 1 duplication) when investigated with array comparative genomic hybridization technology and MLPA. Conclusion: Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.
نوع الوثيقة:	article in journal/newspaper
وصف الملف:	application/pdf
اللغة:	English
تدمد:	2324-9269
العلاقة:	Molecular Genetics & Genomic Medicine;7(12); Martin‐Nalda A, Cueto‐González AM, Argudo‐Ramírez A, Marin‐Soria JL, Martinez‐Gallo M, Colobran R, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain). Mol Genet Genomic Med. 2019 Oct 30;7(12):e1016.; https://hdl.handle.net/11351/5218Test; 000522629400029
DOI:	10.1002/mgg3.1016
الإتاحة:	https://doi.org/10.1002/mgg3.1016Test https://hdl.handle.net/11351/5218Test
حقوق:	Attribution-NonCommercial-NoDerivatives 4.0 International ; http://creativecommons.org/licenses/by-nc-nd/4.0Test/ ; info:eu-repo/semantics/openAccess
رقم الانضمام:	edsbas.4C962643
قاعدة البيانات:	BASE

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الوصف
تدمد:	23249269
DOI:	10.1002/mgg3.1016