Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
Abstract Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for dis...
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Nature Portfolio
2021
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oai:doaj.org-article:be7577baefe0449d9e32b34e4247a6722021-12-02T14:04:41ZWhole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh10.1038/s41525-021-00173-02056-7944https://doaj.org/article/be7577baefe0449d9e32b34e4247a6722021-02-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00173-0https://doaj.org/toc/2056-7944Abstract Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH-associated 46,XY gonadal dysgenesis (GD) or 46,XY sex reversal 7, GNPTAB-associated mucolipidosis II alpha/beta (ML II), BBS1-associated Bardet–Biedl Syndrome (BBS), SURF1-associated Leigh Syndrome (LS) and AP4B1-associated spastic paraplegia-47 (SPG47) in unrelated affected members from Bangladesh. Our analysis pipeline detected three homozygous mutations, including a novel c. 863 G > C (p.Pro288Arg) variant in DHH, and two compound heterozygous variants, including two novel variants: c.2972dupT (p.Met991Ilefs*) in GNPTAB and c.229 G > C (p.Gly77Arg) in SURF1. All mutations were validated by Sanger sequencing. Collectively, this study adds to the genetic heterogeneity of rare genetic diseases and is the first report elucidating the genetic profile of (consanguineous and nonconsanguineous) rare genetic diseases in the Bangladesh population.Hosneara AkterMohammad Shahnoor HossainNushrat Jahan DityMd. Atikur RahamanK. M. Furkan UddinNasna NassirGhausia BegumReem Abdel HameidMuhammad Sougatul IslamTahrima Arman TustyMohammad BasiruzzamanShaoli SarkarMazharul IslamSharmin JahanElaine T. LimMarc Woodbury-SmithDimitri James StavropoulosDarren D. O’RiellyBakhrom K. BerdeivA. H. M. Nurun NabiMohammed Nazmul AhsanStephen W. SchererMohammed UddinNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021) |
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Medicine R Genetics QH426-470 |
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Medicine R Genetics QH426-470 Hosneara Akter Mohammad Shahnoor Hossain Nushrat Jahan Dity Md. Atikur Rahaman K. M. Furkan Uddin Nasna Nassir Ghausia Begum Reem Abdel Hameid Muhammad Sougatul Islam Tahrima Arman Tusty Mohammad Basiruzzaman Shaoli Sarkar Mazharul Islam Sharmin Jahan Elaine T. Lim Marc Woodbury-Smith Dimitri James Stavropoulos Darren D. O’Rielly Bakhrom K. Berdeiv A. H. M. Nurun Nabi Mohammed Nazmul Ahsan Stephen W. Scherer Mohammed Uddin Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| description |
Abstract Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH-associated 46,XY gonadal dysgenesis (GD) or 46,XY sex reversal 7, GNPTAB-associated mucolipidosis II alpha/beta (ML II), BBS1-associated Bardet–Biedl Syndrome (BBS), SURF1-associated Leigh Syndrome (LS) and AP4B1-associated spastic paraplegia-47 (SPG47) in unrelated affected members from Bangladesh. Our analysis pipeline detected three homozygous mutations, including a novel c. 863 G > C (p.Pro288Arg) variant in DHH, and two compound heterozygous variants, including two novel variants: c.2972dupT (p.Met991Ilefs*) in GNPTAB and c.229 G > C (p.Gly77Arg) in SURF1. All mutations were validated by Sanger sequencing. Collectively, this study adds to the genetic heterogeneity of rare genetic diseases and is the first report elucidating the genetic profile of (consanguineous and nonconsanguineous) rare genetic diseases in the Bangladesh population. |
| format |
article |
| author |
Hosneara Akter Mohammad Shahnoor Hossain Nushrat Jahan Dity Md. Atikur Rahaman K. M. Furkan Uddin Nasna Nassir Ghausia Begum Reem Abdel Hameid Muhammad Sougatul Islam Tahrima Arman Tusty Mohammad Basiruzzaman Shaoli Sarkar Mazharul Islam Sharmin Jahan Elaine T. Lim Marc Woodbury-Smith Dimitri James Stavropoulos Darren D. O’Rielly Bakhrom K. Berdeiv A. H. M. Nurun Nabi Mohammed Nazmul Ahsan Stephen W. Scherer Mohammed Uddin |
| author_facet |
Hosneara Akter Mohammad Shahnoor Hossain Nushrat Jahan Dity Md. Atikur Rahaman K. M. Furkan Uddin Nasna Nassir Ghausia Begum Reem Abdel Hameid Muhammad Sougatul Islam Tahrima Arman Tusty Mohammad Basiruzzaman Shaoli Sarkar Mazharul Islam Sharmin Jahan Elaine T. Lim Marc Woodbury-Smith Dimitri James Stavropoulos Darren D. O’Rielly Bakhrom K. Berdeiv A. H. M. Nurun Nabi Mohammed Nazmul Ahsan Stephen W. Scherer Mohammed Uddin |
| author_sort |
Hosneara Akter |
| title |
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| title_short |
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| title_full |
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| title_fullStr |
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| title_full_unstemmed |
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh |
| title_sort |
whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in bangladesh |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/be7577baefe0449d9e32b34e4247a672 |
| work_keys_str_mv |
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