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Iranian Journal of Public Health، جلد ۵۱، شماره ۱۲، صفحات ۲۸۲۶-۲۸۳۰
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عنوان انگلیسی Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report
چکیده انگلیسی مقاله Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients.  A 4-year-old female with pneumonia, cardiomyopathy, growth retardation, peripheral edema, and characteristic craniofacial features was referred to Tehran Hope Generation Foundation Genetic diagnosis Center, in October 2021. Genomic DNA was isolated from peripheral blood samples of the patient and her parents and Whole exome sequencing was performed for the patient. Whole exome sequencing revealed a homozygous G>A splice site variant (TRIM37; c.370-1G>A). Sanger sequencing confirmed the segregation of the variant with phenotype in this family. Whole exome sequencing can be helpful in the diagnosis of the patients suspecting to Mulibrey nanism and lacking sufficient clinical presentation according to the diagnostic algorithm.  
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نویسندگان مقاله | Ali Akbar Zeinaloo
Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran


| Hamidreza Mirzaei Ilali
Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran


| Ehsan Aghaei Moghadam
Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran


| Hamid Reza Khorram Khorshid
Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran


| Emran Esmaeilzadeh
Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran
نشانی اینترنتی https://ijph.tums.ac.ir/index.php/ijph/article/view/26214
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