دورية أكاديمية
Inherited CHST11/ MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease
| العنوان: | Inherited CHST11/ MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease |
|---|---|
| المؤلفون: | Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA |
| المساهمون: | Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA, Yeditepe Üniversitesi |
| بيانات النشر: | WILEY |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | CHST11, inherited lymphoproliferative disorder, malignant lymphoproliferative disorder, MIR3922, skeletal malformation |
| الوصف: | Glycosaminoglycans (GAGs) such as chondroitin are ubiquitous disaccharide carbohydrate chains that contribute to the formation and function of proteoglycans at the cell membrane and in the extracellular matrix. Although GAG-modifying enzymes are required for diverse cellular functions, the role of these proteins in human development and disease is less well understood. Here, we describe two sisters out of seven siblings affected by congenital limb malformation and malignant lymphoproliferative disease. Using Whole-Genome Sequencing (WGS), we identified in the proband deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11 (encoding chondroitin4-sulfotransferase 1) and an embedded microRNA (MIR3922). The deletion was homozygous in the proband but not in each of three unaffected siblings. Genotyping data from the 1000 Genomes Project suggest that deletions inclusive of both CHST11 and MIR3922 are rare events. Given that CHST11 deficiency causes severe chondrodysplasia in mice that is similar to human limb malformation, these results underscore the importance of chondroitin modification in normal skeletal development. Our findings also potentially reveal an unexpected role for CHST11 and/or MIR3922 as tumor suppressors whose disruption may contribute to malignant lymphoproliferative disease. ; NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [HG007229, HG007690, CA009172]; Dana-Farber Leadership Council ; This research was supported by NIH grants HG007229, HG007690, CA009172 and the Dana-Farber Leadership Council. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2324-9269 |
| العلاقة: | MOLECULAR GENETICS & GENOMIC MEDICINE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; WOS: 000214715600006; PubMed ID: 26436107; 413; 423; https://hdl.handle.net/20.500.11831/1571Test |
| الإتاحة: | https://doi.org/20.500.11831/1571Test https://hdl.handle.net/20.500.11831/1571Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.4D1F0986 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 23249269 |
|---|