دورية أكاديمية
أعرض في EDS

Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.

التفاصيل البيبلوغرافية
العنوان: Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.
المؤلفون: Gu J; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Wang C; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Zhang H; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Yue H; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Hu W; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., He J; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Fu W; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China., Zhang Z; Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.
المصدر: International journal of molecular medicine [Int J Mol Med] 2018 Sep; Vol. 42 (3), pp. 1603-1614. Date of Electronic Publication: 2018 Jun 13.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: D.A. Spandidos Country of Publication: Greece NLM ID: 9810955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-244X (Electronic) Linking ISSN: 11073756 NLM ISO Abbreviation: Int J Mol Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Athens, Greece : D.A. Spandidos, [1998-
مواضيع طبية MeSH: Sequence Analysis, DNA*, Mutation/*genetics , Osteomalacia/*genetics , Phosphorus/*metabolism , Rickets, Hypophosphatemic/*genetics, Adult ; Cohort Studies ; DNA Mutational Analysis ; Exons/genetics ; Female ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors/blood ; Humans ; Male ; Middle Aged ; Molecular Sequence Annotation ; Osteomalacia/blood ; Osteomalacia/diagnostic imaging ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; Pedigree ; Rickets, Hypophosphatemic/blood ; Rickets, Hypophosphatemic/diagnostic imaging ; Young Adult
مستخلص: Hypophosphatemic rickets/osteomalacia is characterized by defective renal phosphate reabsorption and abnormal bone mineralization. Hypophosphatemic rickets/osteomalacia consists of inherited and acquired forms, many of which have unknown aetiology. In the present study, next‑generation sequencing‑based resequencing was used on samples from Chinese subjects with hypophosphatemic rickets/osteomalacia, aiming to detect the spectrum of pathogenic genes in these patients. A total of 86 hypophosphatemic rickets/osteomalacia patients (ranging from 3 to 70 years old) were recruited. Patients with tumour‑induced osteomalacia (TIO), renal tubular acidosis, renal osteodystrophy, and adefovir‑induced Fanconi syndrome were excluded. Targeted massively parallel resequencing of 196 candidate genes for hypophosphatemic rickets/osteomalacia was performed in the 86 affected unrelated individuals (cases) and in 100 unrelated healthy controls to identify new genes and mutations in known genes that cause hypophosphatemic rickets/osteomalacia. The results identified seven phosphate‑regulating gene with homologies to endopeptidases on the X chromosome (PHEX) mutations (of which two were novel) and one novel dentin matrix protein 1 (DMP1) mutation in eight patients. Following targeted exome sequencing data analysis, 14 candidate disease‑related gene loci were selected, two of which were of most concern regarding disease severity. Further validation of the present results is warranted, with additional sequencing projects and functional tests. To our knowledge, the present study is the largest cohort of cases with hypophosphatemic rickets/osteomalacia to undergo targeted resequencing. The diagnosis and understanding of the molecular aetiologies of these disorders will be improved by this fast and efficient approach.
المشرفين على المادة: 27YLU75U4W (Phosphorus)
62031-54-3 (Fibroblast Growth Factors)
7Q7P4S7RRE (Fibroblast Growth Factor-23)
EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase)
تواريخ الأحداث: Date Created: 20180615 Date Completed: 20181029 Latest Revision: 20211204
رمز التحديث: 20231215
DOI: 10.3892/ijmm.2018.3730
PMID: 29901142
قاعدة البيانات: MEDLINE
الوصف
تدمد:1791-244X
DOI:10.3892/ijmm.2018.3730