Abstract |
We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. INTRODUCTION: METHODS: We investigated the pathogenic mutations and analyzed their relationship with the phenotype in the patient using next-generation sequencing (NGS) and Sanger sequencing. Moreover, the efficacy of long-term bisphosphonate treatment in this patient was evaluated. RESULTS: The patient suffered from multiple fractures, low bone mass, and bone deformities in the femur, without dentinogenesis imperfecta or hearing loss. Compound heterozygous variants were found in SERPINH1 as follows: c.149 T>G in exon 2 and c.1214G>A in exon 5. His parents were heterozygous carriers of each of these mutations, respectively. Bisphosphonates could be helpful in increasing BMD Z-score, reducing bone fracture risk and reshaping the compressed vertebral bodies of this patient. CONCLUSION: We reported novel compound heterozygous mutations in SERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X.
|
Authors | Y Song, D Zhao, X Xu, F Lv, L Li, Y Jiang, O Wang, W Xia, X Xing, M Li |
Journal | Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
(Osteoporos Int)
Vol. 29
Issue 6
Pg. 1389-1396
(Jun 2018)
ISSN: 1433-2965 [Electronic] England |
PMID | 29520608
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- Bone Density Conservation Agents
- Diphosphonates
- HSP47 Heat-Shock Proteins
- SERPINH1 protein, human
|
Topics |
- Bone Density Conservation Agents
(therapeutic use)
- Child, Preschool
- Diphosphonates
(therapeutic use)
- Follow-Up Studies
- HSP47 Heat-Shock Proteins
(genetics)
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Mutation
- Osteogenesis Imperfecta
(complications, diagnostic imaging, drug therapy, genetics)
- Osteoporotic Fractures
(etiology, genetics, prevention & control)
- Phenotype
- Radiography
|