Li et al. (2009) studied a 15-year-old boy with a history of peripheral fractures, in whom x-rays confirmed metaphyseal and compression fractures, all of which resulted from low-impact trauma. He had a normal 25-hydroxyl vitamin D serum concentration. ... Li et al. (2009) studied a 15-year-old boy with a history of peripheral fractures, in whom x-rays confirmed metaphyseal and compression fractures, all of which resulted from low-impact trauma. He had a normal 25-hydroxyl vitamin D serum concentration. His 17-year-old sister also had a history of repeated fracture, including metaphyseal and compression fractures; her bone mineral density (BMND) Z score was -4.5, and she fulfilled the criteria for primary osteoporosis in adolescents. Examination of family members revealed that the parents, a paternal aunt, and both grandfathers had osteoporosis, with BMND T scores of less than -2.5; the remainder of the family members, including an older brother who had no history of fracture, had BMND T or Z scores ranging from -0.3 to 1.6. By Northern blot analysis, Li et al. (2009) demonstrated that bone MIR2861 expression was undetectable in the proband and his sister.
Li et al. (2009) analyzed the MIR2861 gene in a brother and sister with a history of peripheral and compression fractures and identified homozygosity for a C-to-G substitution in pre-MIR2861 (613405.0001). The parents, a paternal aunt, and both ... Li et al. (2009) analyzed the MIR2861 gene in a brother and sister with a history of peripheral and compression fractures and identified homozygosity for a C-to-G substitution in pre-MIR2861 (613405.0001). The parents, a paternal aunt, and both grandfathers, all of whom had osteoporosis, were heterozygous for the mutation, which was not found in unaffected family members or in 357 normal children, 396 healthy adults, or 369 adult patients with osteoporosis. Li et al. (2009) concluded that the mutation represents a rare variant of MIR2861, which plays a role in osteoblast differentiation and contributes to the development of osteoporosis when mutated.