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Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Tehran University of Medical Sciences
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874190/ https://www.ncbi.nlm.nih.gov/pubmed/36742244 http://dx.doi.org/10.18502/ijph.v51i12.11474 |
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author | Zeinaloo, Ali Akbar Mirzaei Ilali, Hamidreza Aghaei Moghadam, Ehsan Khorram Khorshid, Hamid Reza Esmaeilzadeh, Emran |
author_facet | Zeinaloo, Ali Akbar Mirzaei Ilali, Hamidreza Aghaei Moghadam, Ehsan Khorram Khorshid, Hamid Reza Esmaeilzadeh, Emran |
author_sort | Zeinaloo, Ali Akbar |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9874190 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-98741902023-02-02 Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report Zeinaloo, Ali Akbar Mirzaei Ilali, Hamidreza Aghaei Moghadam, Ehsan Khorram Khorshid, Hamid Reza Esmaeilzadeh, Emran Iran J Public Health Case Report 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. Tehran University of Medical Sciences 2022-12 /pmc/articles/PMC9874190/ /pubmed/36742244 http://dx.doi.org/10.18502/ijph.v51i12.11474 Text en Copyright © 2022 Zeinaloo et al. Published by Tehran University of Medical Sciences https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International license (https://creativecommons.org/licenses/by-nc/4.0/). Non-commercial uses of the work are permitted, provided the original work is properly cited. |
spellingShingle | Case Report Zeinaloo, Ali Akbar Mirzaei Ilali, Hamidreza Aghaei Moghadam, Ehsan Khorram Khorshid, Hamid Reza Esmaeilzadeh, Emran Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title | Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title_full | Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title_fullStr | Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title_full_unstemmed | Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title_short | Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report |
title_sort | whole exome sequencing identified the causative mutation in a 4-year-old female with mulibrey nanism: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874190/ https://www.ncbi.nlm.nih.gov/pubmed/36742244 http://dx.doi.org/10.18502/ijph.v51i12.11474 |
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