• Users Online: 90
  • Print this page
  • Email this page
CASE REPORT
Year : 2020  |  Volume : 32  |  Issue : 1  |  Page : 114-118

The identification and stereochemistry analysis of a novel mutation p.(D367Tfs*61) in the CYP1B1 gene: A case report


1 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
2 Department of Ophthalmology, Feiz Hospital, Isfahan University of Medical Sciences, Isfahan, Iran

Correspondence Address:
Mehrdad Noruzinia
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Jalal Al e Ahmad Street, P. O. Box: 14115.331, Tehran
Iran
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.1016/j.joco.2019.09.004

Rights and Permissions

Purpose: To investigate the presence of a probable genetic defect(s) that may cause primary congenital glaucoma (PCG) in a seven-year-old female patient. Methods: A seven-year-old female patient and her family received genetic counseling and underwent full clinical examinations by an expert ophthalmologist. The patient's genomic DNA was subjected to the targeted gene capture and next-generation sequencing (NGS) along with Sanger sequencing method. The 3D structure prediction and stereochemistry analysis were performed for both mutant and wild-type forms of the CYP1B1 protein. Results: The clinical examinations indicated that the diagnosis of PCG was correctly made. We identified a novel homozygous deletion in which a “C” nucleotide was deleted from the final exon of the Cytochrome P450 Family 1 Subfamily B Member 1 (CYP1B1) gene. The 3D molecular modeling of the CYP1B1 protein predicted significant structural changes could occur in this protein as a result of the mutation mentioned earlier. The stereochemistry analysis revealed mutant features of the protein, as well as significant misfolding and possible malfunctions in the mutant form of the CYP1B1 protein. Conclusions: This mutation might cause a frameshift in the translation process, leading to the malfunction of the CYP1B1 protein and development of glaucoma. This newly-identified mutation could be regarded as potential deletion mutation in genetic counseling and molecular examination for the detection of PCG disease in Iran.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed637    
    Printed37    
    Emailed0    
    PDF Downloaded45    
    Comments [Add]    

Recommend this journal