A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the proband, and not detected in his parents, indicating that it was a de novo mutation. These findings had implication for genetic counseling. In conclusion, we expanded the mutational spectrum of COL1A1 and provided another example of a de novo pathogenic mutation in heterozygosis in a patient born to consanguineous parents.

Reliability of digital compass goniometer in knee joint range of motion measurement.

OBJECTIVE: To compare the reliability of range of motion measurement in the knee joint using a digital compass goniometer combined with inclinometer with standard range of motion measurement from roentgenographic picture. MATERIAL AND METHOD: Range of flexion and extension of the knee joint in volunteer participants was measured by the newly developed digital compass goniometer combined with inclinometer (DCG). The results were compared with range of knee joint motion obtained from standard roentgenographic picture by intraclass correlation coefficient. RESULTS: Range of motion of knee joint measured by DCG correlated very well with the data obtained from standard knee roentgenographic picture. The intraclass correlation coefficient equals 0.973. CONCLUSION: The digital compass goniometer was a reliable tool to measure knee joint range of motion in flexion and extension plane.

Randomized controlled trial between surgery and aspiration combined with methylprednisolone acetate injection plus wrist immobilization in the treatment of dorsal carpal ganglion.

Dorsal carpal ganglion is one of the most common benign tumors of the hand. Many treatment modalities had been proposed and yielded the same success rate. In the present study, the authors conducted a randomized controlled trial to compare the success of treatment between surgery and aspiration combined with methylprednisolone acetate injection plus wrist immobilization. There were 28 patients enrolled and randomized into two treatment groups. Only 24 patients were available for the final follow up at 6 months. According to the present study, dorsal carpal ganglion was more common in females (83.3%) at an average age of 30 years. Pain was the most common presenting symptom (58.3%). The success by excision was 81.8% and by aspiration combined with methylprednisolone acetate injection plus wrist immobilization was 38.46%. The p-value was 0.047 by Fisher exact test. The present study has clearly shown that surgical excision gave a better success rate in the treatment of dorsal carpal ganglion.