Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & EMBASE  
     Home | Subscribe | Feedback  

CASE REPORT
[View FULLTEXT] [Download PDF
 
Year : 2010  |  Volume : 56  |  Issue : 4  |  Page : 290-292  

Identification of a novel mutation in an Indian patient with CAII deficiency syndrome

C Shivaprasad1, P Paliwal2, R Khadgawat1, A Sharma2 
1 Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India
2 Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
A Sharma
Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi
India

Carbonic anhydrase II (CAII) deficiency syndrome characterized by osteopetrosis (OP), renal tubular acidosis (RTA), and cerebral calcifications is caused by mutations in the carbonic anhydrase 2 (CA2) gene. Severity of this disorder varies depending on the nature of the mutation and its effect on the protein. We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation. A novel homozygous deletion mutation c.251delT was seen in the patient resulting in a frameshift and a premature stop codon at amino acid position 90 generating a truncated protein leading to a complete loss of function and a consequential deficiency of the enzyme making this a pathogenic mutation. Confirmation of clinical diagnosis by molecular methods is essential as the clinical features of the CAII deficiency syndrome are similar to other forms of OP but the treatment modalities are different. Genetic confirmation of the diagnosis at an early age leads to the timely institution of therapy improving the growth potential, reduces other complications like fractures, and aids in providing prenatal testing and genetic counseling to the parents planning a pregnancy.


How to cite this article:
Shivaprasad C, Paliwal P, Khadgawat R, Sharma A. Identification of a novel mutation in an Indian patient with CAII deficiency syndrome.J Postgrad Med 2010;56:290-292


How to cite this URL:
Shivaprasad C, Paliwal P, Khadgawat R, Sharma A. Identification of a novel mutation in an Indian patient with CAII deficiency syndrome. J Postgrad Med [serial online] 2010 [cited 2020 Apr 9 ];56:290-292
Available from: http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2010;volume=56;issue=4;spage=290;epage=292;aulast=Shivaprasad;type=0


 
Thursday, April 9, 2020
 Site Map | Home | Contact Us | Feedback | Copyright  and disclaimer