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Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   APRIL 2016 , Volume 19 , Number 4; Page(s) 236 To 240.
 
Paper: 

PROFILING FANCONI ANEMIA GENE MUTATIONS AMONG IRANIAN PATIENTS

 
DOI: 

0161904/AIM.003

 
Author(s):  ESMAILNIA GITI, FADAEE MAHSA, ROYER ROBERT, DEHGHAN KOOROUSH, AKBARI MOHAMMAD R.*
 
* WOMEN'S COLLEGE HOSPITAL, 76 GRENVILLE ST., TORONTO, ONTARIO, M5B 1B2, CANADA
 
Abstract: 

BACKGROUND: Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as an autosomal recessive condition. This disease is genetically heterogeneous and mutations in 16 different genes have been identified in FA patients to date. An accurate diagnosis needs detection of pathogenic variations in the FA genes along with positive results from chromosome breakage test.
METHODS: In this study, 48 families with at least 2 affected FA patients and positive chromosome breakage test were enrolled from the Iranian population. Molecular analysis of FA genes was performed using Next Generation Sequencing (NGS) method and Multiple Ligation Dependent Probe Amplification (MLPA).
RESULTS: Causal mutations for 30 (63%) patients were identified in homozygous or compound heterozygous forms. FANCA had the highest mutation frequency rate (83%) followed by FANCG (10%), FANCD2 (3%) and FANCL (3%). A significant proportion (44%) of FANCA mutations were large rearrangements.
CONCLUSION: Genetic testing for FA patients improves the accuracy of diagnosis and also will be essential for genetic counselling and prenatal diagnosis for future pregnancies in the family. Availability of NGS technology has made the screening of all known FA genes at once more practical and affordable.

 
Keyword(s): FANCONI ANEMIA, FANCA, FANCG, GENE PANEL SEQUENCING, IRAN
 
 
References: 
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Citations: 
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+ Click to Cite.
APA: Copy

ESMAILNIA, G., & FADAEE, M., & ROYER, R., & DEHGHAN, K., & AKBARI, M. (2016). PROFILING FANCONI ANEMIA GENE MUTATIONS AMONG IRANIAN PATIENTS. ARCHIVES OF IRANIAN MEDICINE, 19(4), 236-240. https://www.sid.ir/en/journal/ViewPaper.aspx?id=511744



Vancouver: Copy

ESMAILNIA GITI, FADAEE MAHSA, ROYER ROBERT, DEHGHAN KOOROUSH, AKBARI MOHAMMAD R.. PROFILING FANCONI ANEMIA GENE MUTATIONS AMONG IRANIAN PATIENTS. ARCHIVES OF IRANIAN MEDICINE. 2016 [cited 2021August06];19(4):236-240. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=511744



IEEE: Copy

ESMAILNIA, G., FADAEE, M., ROYER, R., DEHGHAN, K., AKBARI, M., 2016. PROFILING FANCONI ANEMIA GENE MUTATIONS AMONG IRANIAN PATIENTS. ARCHIVES OF IRANIAN MEDICINE, [online] 19(4), pp.236-240. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=511744.



 
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