Peripheral blood DNA from 22 patients (mean age ± SEM, 56.7 ± 2.4 years, 17 females, 5 males) referred for the evaluation of osteopenia/osteoporosis, fragility fractures or CITBL presenting persistent unexplained hypophosphatasemia was screened for genetic aberrations of the ALPL gene. Here, ALPL is linked to Osteopenia.