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Title: Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome
Authors: Ali, Ghazanfar
Foo, Jia Nee
Nasir, Abdul
Chang, Chu-Hua
Chew, Elaine GuoYan
Latif, Zahid
Azeem, Zahid
Ain-Ul-Batool, Syeda
Kazmi, Syed Akif Raza
Awan, Naheed Bashir
Khan, Abdul Hameed
Khalid, Madiha
Wali, Abdul
Sarwar, Samina
Akhtar, Wasim
Ahmed Abbasi, Ansar
Nisar, Rameez
Keywords: Science::Medicine
Issue Date: 2021
Source: Ali, 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-.
Journal: BioMed Research International
Abstract: Background: 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.
ISSN: 2314-6133
DOI: 10.1155/2021/6626015
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.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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