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  1. Article ; Online: Schimke immunoosseous dysplasia: defining skeletal features.

    Hunter, Kshamta B / Lücke, Thomas / Spranger, Jürgen / Smithson, Sarah F / Alpay, Harika / André, Jean-Luc / Asakura, Yumi / Bogdanovic, Radovan / Bonneau, Dominique / Cairns, Robyn / Cransberg, Karlien / Fründ, Stefan / Fryssira, Helen / Goodman, David / Helmke, Knut / Hinkelmann, Barbara / Lama, Guiliana / Lamfers, Petra / Loirat, Chantal /
    Majore, Silvia / Mayfield, Christy / Pontz, Bertram F / Rusu, Cristina / Saraiva, Jorge M / Schmidt, Beate / Shoemaker, Lawrence / Sigaudy, Sabine / Stajic, Natasa / Taha, Doris / Boerkoel, Cornelius F

    European journal of pediatrics

    2009  Volume 169, Issue 7, Page(s) 801–811

    Abstract: Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix- ... ...

    Abstract Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.
    MeSH term(s) Adolescent ; Adult ; Bone and Bones/diagnostic imaging ; Child ; Child, Preschool ; DNA Helicases/genetics ; Diagnosis, Differential ; Genetic Heterogeneity ; Glomerulosclerosis, Focal Segmental/genetics ; Humans ; Lymphopenia/genetics ; Mutation ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Phenotype ; Radiography ; Syndrome
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2009-12-15
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 194196-3
    ISSN 1432-1076 ; 0340-6199 ; 0943-9676
    ISSN (online) 1432-1076
    ISSN 0340-6199 ; 0943-9676
    DOI 10.1007/s00431-009-1115-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Schimke immunoosseous dysplasia: suggestions of genetic diversity.

    Clewing, J Marietta / Fryssira, Helen / Goodman, David / Smithson, Sarah F / Sloan, Emily A / Lou, Shu / Huang, Yan / Choi, Kunho / Lücke, Thomas / Alpay, Harika / André, Jean-Luc / Asakura, Yumi / Biebuyck-Gouge, Nathalie / Bogdanovic, Radovan / Bonneau, Dominique / Cancrini, Caterina / Cochat, Pierre / Cockfield, Sandra / Collard, Laure /
    Cordeiro, Isabel / Cormier-Daire, Valerie / Cransberg, Karlien / Cutka, Karel / Deschenes, Georges / Ehrich, Jochen H H / Fründ, Stefan / Georgaki, Helen / Guillen-Navarro, Encarna / Hinkelmann, Barbara / Kanariou, Maria / Kasap, Belde / Kilic, Sara Sebnem / Lama, Guiliana / Lamfers, Petra / Loirat, Chantal / Majore, Silvia / Milford, David / Morin, Denis / Ozdemir, Nihal / Pontz, Bertram F / Proesmans, Willem / Psoni, Stavroula / Reichenbach, Herbert / Reif, Silke / Rusu, Cristina / Saraiva, Jorge M / Sakallioglu, Onur / Schmidt, Beate / Shoemaker, Lawrence / Sigaudy, Sabine / Smith, Graham / Sotsiou, Flora / Stajic, Natasa / Stein, Anja / Stray-Pedersen, Asbjørg / Taha, Doris / Taque, Sophie / Tizard, Jane / Tsimaratos, Michel / Wong, Newton A C S / Boerkoel, Cornelius F

    Human mutation

    2007  Volume 28, Issue 3, Page(s) 273–283

    Abstract: Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. ... ...

    Abstract Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.
    MeSH term(s) Algorithms ; Child ; Child, Preschool ; DNA Helicases/genetics ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genetic Variation ; Humans ; Immunologic Deficiency Syndromes/genetics ; Infant ; Infant, Newborn ; Male ; Osteochondrodysplasias/genetics ; Phenotype
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2007-03
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.20432
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3586: Show issues Location:
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