2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
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Brakta Charlyne, Tabet Anne-Claude, Puel Mathilde, Pacault Mathilde, Stolzenberg Marie-Claude, Goudet Claire, Merger Marguerite, Reumaux Héloïse, Lambert Nathalie, Alioua Najiba, Malan Valérie, Hanein Sylvain, Dupin-Deguine Delphine, Treiner Emmanuel, Lefèvre Guillaume, Farhat Méryem-Maud, Luca Luminita Elena, Hureaux Marguerite, Li Hailun, Chelloug Nora, Dehak Rabha, Boussion Simon, Ouachée-Chardin Marie, Schleinitz Nicolas, Abou Chahla Wadih, Barlogis Vincent, Vély Frédéric, Oksenhendler Eric, Quartier Pierre, Pasquet Marlène, Suarez Felipe, Bustamante Jacinta, Neven Bénédicte, Picard Capucine, Rieux-Laucat Frédéric, Lévy Jonathan, Rosain Jérémie
Аннотация
METHODS: We conducted a nationwide study in France to identify patients with 2q33 deletions encompassing CTLA4. We investigated the clinical and immunological phenotypes and genotypes of these patients.
RESULTS: We identified 12 patients across six unrelated kindreds with clinical immunodeficiency. Neurological features were recorded in three patients, including one with syndromic neurodevelopmental disorder. Single-nucleotide polymorphism (SNP) or comparative genomic hybridization (CGH) array analysis, and targeted high-throughput sequencing revealed five different heterozygous 2q33 deletions of 26 kilobases to 7.12 megabases in size and encompassing one to 41 genes. We identified a contiguous gene syndrome (CGS) due to associated KLF7 deficiency in a kindred with a neurodevelopmental phenotype.
CONCLUSION: Deletions within the 2q33 region encompassing CTLA4 are rare and not extensively explored, and are probably underdiagnosed in cytogenetic practice. A literature review identified 14 different CGS loci including at least one gene responsible for an IEI. The deletions involved in IEIs should be systematically delimited, to facilitate screening for CGS.