دوره 11، شماره 4 - ( 8-1402 )
جلد 11 شماره 4 صفحات 0-0 |
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Jalali H, Pourfatemi F, Rahimi M, Mahdavi M R. A Novel ZC4H2 Gene Variant (c.197 T>C) Associated With Wieacker-Wolff Syndrome: A Case Report From North of Iran. Res Mol Med (RMM) 2023; 11 (4)
URL: http://rmm.mazums.ac.ir/article-1-551-fa.html
URL: http://rmm.mazums.ac.ir/article-1-551-fa.html
A Novel ZC4H2 Gene Variant (c.197 T>C) Associated With Wieacker-Wolff Syndrome: A Case Report From North of Iran. Research in Molecular Medicine. 1402; 11 (4)
چکیده: (450 مشاهده)
Background: The ZC4H2 gene is highly expressed during brain development and its expression involves the nervous system, especially during the fetal period. The pathogenic variants in the ZC4H2 gene are associated with X-linked intellectual disability (ID).
Materials and Methods: DNA analyses on a 3-year-old boy with mental retardation, muscular atrophy, developmental delay, movement and respiratory problems and joint contracture using whole exome sequencing and confirmatory Sanger sequencing method revealed a novel pathogenic variant (c. 197 T>C) in the ZC4H2 gene.
Results: This variant affects the nervous system’s development, leading to a better understanding of ZC4H2 function.
Conclusion: Genotype/phenotype correlation analysis of new cases with pathogenic variants on the ZC4H2 gene could be informative for a better understanding of the ZC4H2 function in humans.
Materials and Methods: DNA analyses on a 3-year-old boy with mental retardation, muscular atrophy, developmental delay, movement and respiratory problems and joint contracture using whole exome sequencing and confirmatory Sanger sequencing method revealed a novel pathogenic variant (c. 197 T>C) in the ZC4H2 gene.
Results: This variant affects the nervous system’s development, leading to a better understanding of ZC4H2 function.
Conclusion: Genotype/phenotype correlation analysis of new cases with pathogenic variants on the ZC4H2 gene could be informative for a better understanding of the ZC4H2 function in humans.
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