Genetic Skeletal Disorders, GSD
Conditions
Interventions
Gold Standard:Whole exome sequencing suggests that the child has a PUF60 mutation. After further Sanger sequencing, if the same PUF60 mutation is also detected, then the child has a PUF60 mutation sit
Index test:The sanger sequencing
Sponsors
Beijing Childrens Hospital,Capital Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Age: children or adolescents aged 0-18 years. 2. Clinical and molecular diagnosis: PUF60 mutation was found in all the children with hereditary bone disease diagnosed by whole exome sequencing in our hospital.
Exclusion criteria
Exclusion criteria: 1. Children with non-hereditary bone disease and non-PUF60 gene mutation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sanger sequencing revealed gene mutations in the patient;Clinical skeletal (e.g., craniofacial, scapular, spine, and body condition) and nonskeletal (heart, kidney) phenotypes; | — |
Secondary
| Measure | Time frame |
|---|---|
| The height of child, the CT scan of bone; | — |
Countries
China
Contacts
Public ContactChanjuan Hao
Beijing Childrens Hospital,Capital Medical University
Outcome results
None listed