97413 20230706131420.0 doi 10.3390/app11020710 sideral 121806 ART-2021-121806 eng Matute-Llorente, Ángel Universidad de Zaragoza (orcid)0000-0001-8500-1667 Targeted gene sequencing, bone health, and body composition in Cornelia de Lange Syndrome 2021 Access copy available to the general public Unrestricted The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5-38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4-11.1 and 8.4-17.0 kgm2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than -2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08-2.49 nmolL, 2.10-3.75 nmolL, 39.94-78.37 nmolL, 23.4-80.3 pgmL, and 43-203 IUL, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood. info:eu-repo/grantAgreement/ES/DGA/B32-17R info:eu-repo/grantAgreement/ES/FIS/PI19-01860 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 2.838 2021 ENGINEERING, MULTIDISCIPLINARY 39 / 92 = 0.424 2021 Q2 T2 PHYSICS, APPLIED 76 / 161 = 0.472 2021 Q2 T2 MATERIALS SCIENCE, MULTIDISCIPLINARY 218 / 344 = 0.634 2021 Q3 T2 CHEMISTRY, MULTIDISCIPLINARY 100 / 179 = 0.559 2021 Q3 T2 0.507 2021 Engineering (miscellaneous) 2021 Q2 Computer Science Applications 2021 Q2 Process Chemistry and Technology 2021 Q2 Materials Science (miscellaneous) 2021 Q2 Fluid Flow and Transfer Processes 2021 Q2 3.7 2021 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Ascaso, Ángela Latorre-Pellicer, Ana Universidad de Zaragoza (orcid)0000-0002-4703-6620 Puisac, Beatriz Universidad de Zaragoza (orcid)0000-0003-0170-7326 Trujillano, Laura Llorente, Elena Puente-Lanzarote, Juan José Universidad de Zaragoza (orcid)0000-0002-7213-7095 Ayerza-Casas, Ariadna (orcid)0000-0002-0023-8137 Arnedo, María Universidad de Zaragoza (orcid)0000-0001-9962-2157 Moreno, Luis A. Universidad de Zaragoza (orcid)0000-0003-0454-653X Ramos, Feliciano Universidad de Zaragoza (orcid)0000-0002-5732-2209 Pié, Juan Universidad de Zaragoza (orcid)0000-0003-3203-6254 Casajus, José A. Universidad de Zaragoza (orcid)0000-0002-7215-6931 Bueno-Lozano, Gloria Universidad de Zaragoza (orcid)0000-0002-0902-387X 1006 255 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Enfermería 1006 245 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Educación Física y Depor. 1012 410 Universidad de Zaragoza Dpto. Farmac.Fisiol.y Med.L.F. Área Fisiología 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 11, 2 (2021), 710 [11 pp] Appl. sci. Applied Sciences (Switzerland) 2076-3417 228492 http://zaguan.unizar.es/record/97413/files/texto_completo.pdf Versión publicada 527755 http://zaguan.unizar.es/record/97413/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:97413 articulos driver 2023-07-06-12:21:09 ARTICLE