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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

ABSTRACT: Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904?kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ?66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

SUBMITTER: Poirsier C

PROVIDER: S-EPMC4867458 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Poirsier Céline C Besseau-Ayasse Justine J Schluth-Bolard Caroline C Toutain Jérôme J Missirian Chantal C Le Caignec Cédric C Bazin Anne A de Blois Marie Christine MC Kuentz Paul P Catty Marie M Choiset Agnès A Plessis Ghislaine G Basinko Audrey A Letard Pascaline P Flori Elisabeth E Jimenez Mélanie M Valduga Mylène M Landais Emilie E Lallaoui Hakima H Cartault François F Lespinasse James J Martin-Coignard Dominique D Callier Patrick P Pebrel-Richard Céline C Portnoi Marie-France MF Busa Tiffany T Receveur Aline A Amblard Florence F Yardin Catherine C Harbuz Radu R Prieur Fabienne F Le Meur Nathalie N Pipiras Eva E Kleinfinger Pascale P Vialard François F Doco-Fenzy Martine M

European journal of human genetics : EJHG 20151028 6

Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed bet ...[more]

PMID: 26508576

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Project description:MOTIVATION:Accurate identification of peptides binding to specific Major Histocompatibility Complex Class II (MHC-II) molecules is of great importance for elucidating the underlying mechanism of immune recognition, as well as for developing effective epitope-based vaccines and promising immunotherapies for many severe diseases. Due to extreme polymorphism of MHC-II alleles and the high cost of biochemical experiments, the development of computational methods for accurate prediction of binding peptides of MHC-II molecules, particularly for the ones with few or no experimental data, has become a topic of increasing interest. TEPITOPE is a well-used computational approach because of its good interpretability and relatively high performance. However, TEPITOPE can be applied to only 51 out of over 700 known HLA DR molecules. METHOD:We have developed a new method, called TEPITOPEpan, by extrapolating from the binding specificities of HLA DR molecules characterized by TEPITOPE to those uncharacterized. First, each HLA-DR binding pocket is represented by amino acid residues that have close contact with the corresponding peptide binding core residues. Then the pocket similarity between two HLA-DR molecules is calculated as the sequence similarity of the residues. Finally, for an uncharacterized HLA-DR molecule, the binding specificity of each pocket is computed as a weighted average in pocket binding specificities over HLA-DR molecules characterized by TEPITOPE. RESULT:The performance of TEPITOPEpan has been extensively evaluated using various data sets from different viewpoints: predicting MHC binding peptides, identifying HLA ligands and T-cell epitopes and recognizing binding cores. Among the four state-of-the-art competing pan-specific methods, for predicting binding specificities of unknown HLA-DR molecules, TEPITOPEpan was roughly the second best method next to NETMHCIIpan-2.0. Additionally, TEPITOPEpan achieved the best performance in recognizing binding cores. We further analyzed the motifs detected by TEPITOPEpan, examining the corresponding literature of immunology. Its online server and PSSMs therein are available at http://www.biokdd.fudan.edu.cn/Service/TEPITOPEpan/.

Dataset Information

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Publications

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

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