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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 12/2023

Open Access 24-01-2023 | Hypophosphatemic Rickets | Original Article

Exome Sequencing in Monogenic Forms of Rickets

Authors: Prince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, Zheng Wang, Sankar V. Hariharan, Kishan Delampady, Ashwin Dalal, Nutan Kamath, Shiro Ikegawa, Rathika D. Shenoy, Koushik Handattu, Hitesh Shah, Katta M. Girisha

Published in: Indian Journal of Pediatrics | Issue 12/2023

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Abstract

Objective

To understand the phenotypic and genotypic spectrum of genetic forms of rickets in 10 families.

Methods

Detailed clinical, radiographic, and biochemical evaluation of 10 families with phenotypes suggestive of a genetic cause of rickets was performed. Molecular testing using exome sequencing aided in the diagnosis of six different forms of known genetic causes.

Results

Eleven disease-causing variants including five previously reported variants (CYP27B1:c.1319_1325dup, p.(Phe443Profs*24), VDR:c.1171C>T, p.(Arg391Cys), PHEX: c.1586_1586+1del, PHEX: c.1482+5G>C, PHEX: c.58C>T, p.(Arg20*)) and six novel variants (CYP27B1:c.974C>T, p.(Thr325Met), CYP27B1: c.1376G>A, p.(Arg459His), CYP2R1: c.595C>T, p.(Arg199*), CYP2R1:c.1330G>C, p.(Gly444Arg),SLC34A3:c.1336-11_1336-1del, SLC2A2: c.589G>C, p.(Val197Leu)) in the genes known to cause monogenic rickets were identified.

Conclusion

The authors hereby report a case series of individuals from India with a molecular diagnosis of rickets and provide the literature review which would help in enhancing the clinical and molecular profile for rapid and differential diagnosis of rickets.
Appendix
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Metadata
Title
Exome Sequencing in Monogenic Forms of Rickets
Authors
Prince Jacob
Gandham SriLakshmi Bhavani
Prajna Udupa
Zheng Wang
Sankar V. Hariharan
Kishan Delampady
Ashwin Dalal
Nutan Kamath
Shiro Ikegawa
Rathika D. Shenoy
Koushik Handattu
Hitesh Shah
Katta M. Girisha
Publication date
24-01-2023
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 12/2023
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-022-04393-9

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