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Exome Sequencing in Monogenic Forms of Rickets
Prince Jacob1, Gandham SriLakshmi Bhavani1, Prajna Udupa1
1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Indian Journal of Pediatrics
|January 24, 2023
Summary
Genetic rickets diagnosis was advanced by identifying eleven variants in six genes across ten families. This study enhances understanding of monogenic rickets for improved clinical and molecular diagnostics.
Area of Science:
- Genetics
- Pediatrics
- Biochemistry
Background:
- Rickets, a disorder of bone mineralization, can stem from genetic defects.
- Understanding the genetic basis of rickets is crucial for accurate diagnosis and management.
Purpose of the Study:
- To investigate the phenotypic and genotypic spectrum of genetic rickets in ten Indian families.
- To identify causative genetic variants in individuals with suspected monogenic rickets.
Main Methods:
- Clinical, radiographic, and biochemical evaluations were conducted on ten families.
- Exome sequencing was employed for molecular testing to identify genetic variants.
Main Results:
- Eleven disease-causing variants were identified in genes associated with monogenic rickets.
- These included five previously reported variants and six novel variants in genes such as CYP27B1, VDR, PHEX, CYP2R1, SLC34A3, and SLC2A2.
Conclusions:
- This case series reports molecular diagnoses for genetic rickets in Indian individuals.
- The findings contribute to an enhanced clinical and molecular profile for rapid differential diagnosis of rickets.
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