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Review
Features, genetics and their correlation in Jalili syndrome: a systematic review
  1. Yousef Daneshmandpour1,2,
  2. Hossein Darvish3,
  3. Fariba Pashazadeh4,5,
  4. Babak Emamalizadeh1
  1. 1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran (the Islamic Republic of)
  2. 2 Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran (the Islamic Republic of)
  3. 3 Department of Medical Genetics, Semnan University of Medical Sciences and Health Services, Semnan, Iran (the Islamic Republic of)
  4. 4 Research Center for Evidence-Based Medicine, Health Management and Safety Promotion Research Institute, Tabriz University of Medical Sciences, Tabriz, Iran (the Islamic Republic of)
  5. 5 Iranian EBM Centre: A Joanna Briggs Institute Affiliated Group, Tabriz University of Medical Sciences, Tabriz, Iran (the Islamic Republic of)
  1. Correspondence to Dr Babak Emamalizadeh, Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz 51368, Iran; emamalizadeh_b{at}yahoo.com

Abstract

Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. Molecular analysis has revealed that the CNNM4 gene is responsible for this rare syndrome. Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. In the current scoping systematic review we searched electronic databases to find studies related to Jalili syndrome. In this review we summarise the reported clinical symptoms, CNNM4 gene and protein structure, CNNM4 mutations, attempts to reach a genotype-phenotype correlation, the functional role of CNNM4 mutations, and epidemiological aspects of Jalili syndrome. In addition, we have analysed the reported mutations in mutation effect prediction databases in order to gain a better understanding of the mutation’s outcomes.

  • jalili syndrome
  • cnnm4
  • photoreceptor dystrophies
  • amelogenesis imperfecta
  • cone-rode dystrophy

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Footnotes

  • Contributors YD searched the literature and wrote the paper. HD wrote and edited the paper. BE designed, wrote and edited the paper. FP conducted the systematic search.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Not required.