Show simple item record

dc.contributor.authorSarker, Shaoli
dc.contributor.authorEshaque, Tamannyat Binte
dc.contributor.authorSoorajkumar, Anjana
dc.contributor.authorNassir, Nasna
dc.contributor.authorZehra, Binte
dc.contributor.authorKanta, Shayla Imam
dc.contributor.authorRahaman, Md Atikur
dc.contributor.authorIslam, Amirul
dc.contributor.authorAkter, Shimu
dc.contributor.authorAli, Mohammad Kawsar
dc.contributor.authorMim, Rabeya Akter
dc.contributor.authorUddin, K M Furkan
dc.contributor.authorChowdhury, Mohammod Shah Jahan
dc.contributor.authorShams, Nusrat
dc.contributor.authorBaqui, Md Abdul
dc.contributor.authorLim, Elaine T
dc.contributor.authorAkter, Hosneara
dc.contributor.authorWoodbury-Smith, Marc
dc.contributor.authorUddin, Mohammed
dc.date.accessioned2023-12-15T16:53:23Z
dc.date.available2023-12-15T16:53:23Z
dc.date.issued2023-12-06
dc.identifier.citationSarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Sci Rep. 2023 Dec 6;13(1):21547. doi: 10.1038/s41598-023-48982-w. PMID: 38057384; PMCID: PMC10700514.en_US
dc.identifier.eissn2045-2322
dc.identifier.doi10.1038/s41598-023-48982-wen_US
dc.identifier.pmid38057384
dc.identifier.urihttp://hdl.handle.net/20.500.14038/52872
dc.description.abstractDuchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population. We investigated the rare mutational and phenotypic spectrum of the DMD gene in 36 DMD-suspected Bangladeshi participants using an economically affordable diagnostic strategy involving initial screening for exonic deletions in the DMD gene via multiplex PCR, followed by testing PCR-negative patients for mutations using whole exome sequencing. The deletion mapping identified two critical DMD gene hotspot regions (near proximal and distal ends, spanning exons 8-17 and exons 45-53, respectively) that comprised 95% (21/22) of the deletions for this population cohort. From our exome analysis, we detected two novel pathogenic hemizygous mutations in exons 21 and 42 of the DMD gene, and novel pathogenic recessive and loss of function variants in four additional genes: SGCD, DYSF, COL6A3, and DOK7. Our phenotypic analysis showed that DMD suspected participants presented diverse phenotypes according to the location of the mutation and which gene was impacted. Our study provides ethnicity specific new insights into both clinical and genetic aspects of DMD.en_US
dc.language.isoenen_US
dc.relation.ispartofScientific Reportsen_US
dc.relation.urlhttps://doi.org/10.1038/s41598-023-48982-wen_US
dc.rightsOpen Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creativecommons. org/ licenses/ by/4. 0/. © The Author(s) 2023en_US
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectBehavioural geneticsen_US
dc.subjectClinical geneticsen_US
dc.subjectCytogeneticsen_US
dc.subjectDevelopmenten_US
dc.subjectDiseasesen_US
dc.subjectDiseases of the nervous systemen_US
dc.subjectGenotypeen_US
dc.subjectMedical geneticsen_US
dc.subjectMutationen_US
dc.subjectNeurodevelopmental disordersen_US
dc.subjectNeurological disordersen_US
dc.titleMutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi populationen_US
dc.typeJournal Articleen_US
dc.source.journaltitleScientific reports
dc.source.volume13
dc.source.issue1
dc.source.beginpage21547
dc.source.endpage
dc.source.countryEngland
dc.identifier.journalScientific reports
refterms.dateFOA2023-12-15T16:53:25Z
dc.contributor.departmentGenomics and Computational Biologyen_US
dc.contributor.departmentMolecular, Cell and Cancer Biologyen_US


Files in this item

Thumbnail
Name:
s41598-023-48982-w.pdf
Size:
2.278Mb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record

Open Access: This article is licensed under a Creative Commons Attribution 4.0 International
License, which permits use, sharing, adaptation, distribution and reproduction in any medium or
format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the
Creative Commons licence, and indicate if changes were made. The images or other third party material in this
article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the
material. If material is not included in the article’s Creative Commons licence and your intended use is not
permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from
the copyright holder. To view a copy of this licence, visit http:// creativecommons. org/ licenses/ by/4. 0/.
© The Author(s) 2023
Except where otherwise noted, this item's license is described as Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creativecommons. org/ licenses/ by/4. 0/. © The Author(s) 2023