• Users Online: 47
  • Print this page
  • Email this page
ORIGINAL RESEARCH ARTICLE
Year : 2013  |  Volume : 6  |  Issue : 2  |  Page : 233-240

A study in pleiotropy – Jalili syndrome


1 Centre for Arab Genomic Studies, Dubai, United Arab Emirates
2 Centre for Arab Genomic Studies, Dubai, United Arab Emirates; Faculty of Public Health, Jinan University of Lebanon, Tripoli, Lebanon
3 Stamford, UK

Correspondence Address:
Ghazi Omar Tadmouri
Centre for Arab Genomic Studies, 22252 Dubai, United Arab Emirates and Faculty of Public Health, Jinan University of Lebanon, Tripoli

Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.7707/hmj.v6i2.248

Rights and Permissions

Jalili syndrome, first described 25 years ago in a Palestinian family, is a rare autosomal recessive genetic disorder that is characterized by the comorbid appearance of cone–rod dystrophy (CRD) and amelogenesis imperfecta. To date, 71 patients with this condition belonging to 17 different families have been reported worldwide. Studies into the molecular aetiology of Jalili syndrome have identified mutations in the CNNM4 gene, located on chromosome 2q11. Other members of this protein family have been shown to be involved in mineral transport. We postulate a role for the CNNM4 protein in metal ion transport and homeostasis and especially in the transport of magnesium ions. Mutations in the gene could interfere with the depolarization process of retinal cells, as well as in the dental biomineralization process. We also show that mutations localized to the transmembrane domain of this protein result in more severe phenotypes of the syndrome, indicating an important function for this domain, probably as a transmembrane channel for metal transport. Jalili syndrome offers an example of how a single mutation in a gene is capable of affecting two independent traits by causing a defect in a single protein that carries out essentially the same function in two different tissue types. Given that 274 inherited disorders, almost exclusively reported in Arab families, have no defined genetic aetiologies as yet, and with the increasing trend of genome-wide association studies in the region, it is highly plausible that more conditions will be assumed to be manifestations of pleiotropy.


[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
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed103    
    Printed4    
    Emailed0    
    PDF Downloaded7    
    Comments [Add]    
    Cited by others 4    

Recommend this journal