Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

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 CdLS (five females, all Caucasian, aged 5–38 years) were assessed. Total less head (TBLH) lumbar spine (LS) scans performed, serum biomarkers determined. Molecular analyses carried out clinical scores skeletal features Based on deep sequencing a custom target gene panel, it discovered that eight the patients had potentially causative genetic variants NIPBL. Fat lean mass indices (FMI LMI) 3.4–11.1 8.4–17.0 kg/m2, respectively. For TBLH areal mineral density (aBMD), after adjusting for height age Z-score children adolescents, two (an adolescent an adult) low BMD (aBMD Z-scores than –2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, alkaline phosphatase levels 2.08–2.49 nmol/L, 2.10–3.75 39.94–78.37 23.4–80.3 pg/mL, 43–203 IU/L, Individuals might have normal adiposity measured DXA. Bone population seems be concern during childhood adolescence. However, they at risk impaired due aBMD adulthood.