نمایش مختصر رکورد

dc.contributor.authorJavadikooshesh, Sepehren_US
dc.contributor.authorZaimkohan, Hooshangen_US
dc.contributor.authorPourghorban, Parisaen_US
dc.contributor.authorBahramim, Fatemehen_US
dc.contributor.authorEbadi, Naderen_US
dc.date.accessioned1400-08-25T00:22:52Zfa_IR
dc.date.accessioned2021-11-16T00:22:53Z
dc.date.available1400-08-25T00:22:52Zfa_IR
dc.date.available2021-11-16T00:22:53Z
dc.date.issued2021-11-01en_US
dc.date.issued1400-08-10fa_IR
dc.date.submitted2020-07-05en_US
dc.date.submitted1399-04-15fa_IR
dc.identifier.citationJavadikooshesh, Sepehr, Zaimkohan, Hooshang, Pourghorban, Parisa, Bahramim, Fatemeh, Ebadi, Nader. (2021). Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report. Iranian Journal of Medical Sciences, 46(6), 493-497. doi: 10.30476/ijms.2021.87126.1736en_US
dc.identifier.issn0253-0716
dc.identifier.issn1735-3688
dc.identifier.urihttps://dx.doi.org/10.30476/ijms.2021.87126.1736
dc.identifier.urihttps://ijms.sums.ac.ir/article_47692.html
dc.identifier.urihttps://iranjournals.nlai.ir/handle/123456789/843149
dc.description.abstractPelizaeus-Merzbacher-Like Disease 1 is a genetic disorder affecting the central nervous system with an autosomal recessive inheritance pattern. It is a rare genetic disorder that affects the central nervous system. In this report, we demonstrated the clinical and paraclinical features of an Iranian consanguine pedigree with suspected hypomyelinating leukodystrophy, without any defined diagnosis. The proband, a 15-month-old girl, visited the Razi pathobiology and medical genetic laboratory of Karaj, where the study was conducted in 2020. Following whole-exome sequencing analysis of the proband and segregation analysis, a novel pathogenic mutation was discovered. GJC2 (NM_020435.4):c.1096dupG was found to be homozygous in the proband and heterozygous in both parents. This mutation was in the coding region of the protein, which results in D366Gfs*126 (p.Asp366GlyfsTer126). The site of mutation was at the 3' region of the connexin superfamily domain. The frameshift results in a different peptide sequence of the C-terminal and extended protein. Our findings led to the diagnosis of the proband's disease as Pelizaeus-Merzbacher-Like Disease 1 and led to the end of the diagnostic odyssey. We provided effective genetic counseling through the identification of a novel pathogenic mutation in gap junction protein C2 in this family and suggested preimplantation genetic diagnosis for the next pregnancy. Furthermore, our findings confirmed the association of GJC2 mutations with PMLD1. This discovery added to the repertoire of genetic mutations of Pelizaeus-Merzbacher-Like Disease 1. This knowledge could be applied for expanded carrier screening of other families, especially for Iranian consanguine marriages.en_US
dc.format.extent600
dc.format.mimetypeapplication/pdf
dc.languageEnglish
dc.language.isoen_US
dc.publisherShiraz University of Medical Sciencesen_US
dc.relation.ispartofIranian Journal of Medical Sciencesen_US
dc.relation.isversionofhttps://dx.doi.org/10.30476/ijms.2021.87126.1736
dc.subjectLeukodystrophy, Hypomyelinating, 2en_US
dc.subjectMutationen_US
dc.subjectWhole exome sequencingen_US
dc.subjectCentral nervous system diseasesen_US
dc.titlePelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Reporten_US
dc.typeTexten_US
dc.typeCase Report(s)en_US
dc.contributor.departmentRazi Pathobiology and Medical Genetic Laboratory, Karaj, Iranen_US
dc.contributor.departmentRazi Pathobiology and Medical Genetic Laboratory, Karaj, Iranen_US
dc.contributor.departmentRazi Pathobiology and Medical Genetic Laboratory, Karaj, Iranen_US
dc.contributor.departmentRazi Pathobiology and Medical Genetic Laboratory, Karaj, Iranen_US
dc.contributor.departmentRazi Pathobiology and Medical Genetic Laboratory, Karaj, Iranen_US
dc.citation.volume46
dc.citation.issue6
dc.citation.spage493
dc.citation.epage497
nlai.contributor.orcid0000-0003-0910-5987


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