Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/151083
Full metadata record
DC FieldValueLanguage
dc.contributor.authorAli, Ghazanfaren_US
dc.contributor.authorSadiaen_US
dc.contributor.authorFoo, Jia Neeen_US
dc.contributor.authorNasir, Abdulen_US
dc.contributor.authorChang, Chu-Huaen_US
dc.contributor.authorChew, Elaine GuoYanen_US
dc.contributor.authorLatif, Zahiden_US
dc.contributor.authorAzeem, Zahiden_US
dc.contributor.authorAin-Ul-Batool, Syedaen_US
dc.contributor.authorKazmi, Syed Akif Razaen_US
dc.contributor.authorAwan, Naheed Bashiren_US
dc.contributor.authorKhan, Abdul Hameeden_US
dc.contributor.authorFazal-Ur-Rehmanen_US
dc.contributor.authorKhalid, Madihaen_US
dc.contributor.authorWali, Abdulen_US
dc.contributor.authorSarwar, Saminaen_US
dc.contributor.authorAkhtar, Wasimen_US
dc.contributor.authorAhmed Abbasi, Ansaren_US
dc.contributor.authorNisar, Rameezen_US
dc.date.accessioned2021-06-28T03:15:14Z-
dc.date.available2021-06-28T03:15:14Z-
dc.date.issued2021-
dc.identifier.citationAli, G., Sadia, Foo, J. N., Nasir, A., Chang, C., Chew, E. G., Latif, Z., Azeem, Z., Ain-Ul-Batool, S., Kazmi, S. A. R., Awan, N. B., Khan, A. H., Fazal-Ur-Rehman, Khalid, M., Wali, A., Sarwar, S., Akhtar, W., Ahmed Abbasi, A. & Nisar, R. (2021). Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome. BioMed Research International, 2021, 6626015-. https://dx.doi.org/10.1155/2021/6626015en_US
dc.identifier.issn2314-6133en_US
dc.identifier.other0000-0002-6172-9503-
dc.identifier.other0000-0001-8270-2134-
dc.identifier.other0000-0002-2339-3500-
dc.identifier.other0000-0003-4335-7950-
dc.identifier.other0000-0003-1427-1197-
dc.identifier.other0000-0001-6650-5747-
dc.identifier.other0000-0002-8888-3076-
dc.identifier.other0000-0002-8006-0622-
dc.identifier.other0000-0003-0728-1709-
dc.identifier.other0000-0001-8818-5369-
dc.identifier.other0000-0002-5960-5843-
dc.identifier.urihttps://hdl.handle.net/10356/151083-
dc.description.abstractBackground: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s in patients exhibiting clinical features of BBS. Methods: The identification of disease-causing variant was done by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche NimbleGen). The identified variant was further validated by Sanger sequencing. Results: WES revealed a novel homozygous missense mutation (NM_031885: c.443A>T:p.N148I) in exon 3 of the BBS2 gene. Sanger sequencing confirmed this variant as homozygous in both affected subjects and heterozygous in obligate parents, demonstrating autosomal recessive inheritance pattern. To the best of our knowledge, this variant was not present in literature and all publically available databases. The candidate variant is predicted to be pathogenic by a set of in-silico softwares. Conclusion: Clinical and genetic spectrum of BBS and BBS-like disorders is not completely defined in the Pakistani as well as in Kashmiri population. Therefore, more comprehensive genetic studies are required to gain insights into genotype-phenotype associations to facilitate carrier screening and genetic counseling of families with such disorders.en_US
dc.description.sponsorshipAgency for Science, Technology and Research (A*STAR)en_US
dc.description.sponsorshipNanyang Technological Universityen_US
dc.language.isoenen_US
dc.relation.ispartofBioMed Research Internationalen_US
dc.rights© 2021 Ghazanfar Ali et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en_US
dc.subjectScience::Medicineen_US
dc.titleIdentification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndromeen_US
dc.typeJournal Articleen
dc.contributor.schoolLee Kong Chian School of Medicine (LKCMedicine)en_US
dc.contributor.organizationGenome Institute of Singapore, A*STARen_US
dc.identifier.doi10.1155/2021/6626015-
dc.description.versionPublished versionen_US
dc.identifier.pmid33688495-
dc.identifier.scopus2-s2.0-85102259510-
dc.identifier.volume2021en_US
dc.identifier.spage6626015en_US
dc.subject.keywordsBardet-Biedl Syndromeen_US
dc.subject.keywordsMutationen_US
dc.description.acknowledgementThis work was partially supported by “Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232, Singapore, and Human Genetics, Genome Institute of Singapore, ASTAR, 60 Biopolis Street, Singapore 138672, Singapore.” We sincerely thank the patients and their families for their enthusiastic participation.en_US
item.fulltextWith Fulltext-
item.grantfulltextopen-
Appears in Collections:LKCMedicine Journal Articles
Files in This Item:
File Description SizeFormat 
6626015.pdf1.54 MBAdobe PDFView/Open

Page view(s)

55
Updated on Oct 27, 2021

Download(s)

5
Updated on Oct 27, 2021

Google ScholarTM

Check

Altmetric


Plumx

Items in DR-NTU are protected by copyright, with all rights reserved, unless otherwise indicated.