In:
Indian Journal of Pediatrics, Springer Science and Business Media LLC
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0019-5456
,
0973-7693
DOI:
10.1007/s12098-022-04393-9
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2023
detail.hit.zdb_id:
2065273-2
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