Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study
<h2>Background</h2><p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population.</p><h2>Methods</h2&g...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , |
| منشور في: |
2023
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| الموضوعات: | |
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إضافة وسم
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| _version_ | 1864513530989903872 |
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| author | Faisal Ibrahim (317415) |
| author2 | Dinesh Velayutham (5444072) Mohamed Alsharshani (14778928) Usama AlAlami (17039846) Manar AlDewik (17760123) Tala Abuarja (17075070) Hilal Al Rifai (17760126) Nader I. Al‐Dewik (14778934) |
| author2_role | author author author author author author author |
| author_facet | Faisal Ibrahim (317415) Dinesh Velayutham (5444072) Mohamed Alsharshani (14778928) Usama AlAlami (17039846) Manar AlDewik (17760123) Tala Abuarja (17075070) Hilal Al Rifai (17760126) Nader I. Al‐Dewik (14778934) |
| author_role | author |
| dc.creator.none.fl_str_mv | Faisal Ibrahim (317415) Dinesh Velayutham (5444072) Mohamed Alsharshani (14778928) Usama AlAlami (17039846) Manar AlDewik (17760123) Tala Abuarja (17075070) Hilal Al Rifai (17760126) Nader I. Al‐Dewik (14778934) |
| dc.date.none.fl_str_mv | 2023-11-15T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1002/mgg3.2184 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Studying_carrier_frequency_of_spinal_muscular_atrophy_in_the_State_of_Qatar_and_comparison_to_other_ethnic_groups_Pilot_study/24967059 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Neurosciences Human society Human geography copy number (CN) variations SMA SMN1 SMN2 SNPs |
| dc.title.none.fl_str_mv | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h2>Background</h2><p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population.</p><h2>Methods</h2><p dir="ltr">We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.</p><h2>Results</h2><p dir="ltr">The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%). In Addition 242/11379 (2.13%) had two copies of SMN1 and the rs143838139, which may explain the (2 + 0) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in SMN1 and SMN2, respectively.</p><h2>Conclusion</h2><p dir="ltr">The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.</p><p dir="ltr"><br></p><h2>Other Information</h2><p dir="ltr">Published in: Molecular Genetics & Genomic Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/mgg3.2184" target="_blank">https://dx.doi.org/10.1002/mgg3.2184</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_e5b2d1b42708049dd88b54973140411e |
| identifier_str_mv | 10.1002/mgg3.2184 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/24967059 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot studyFaisal Ibrahim (317415)Dinesh Velayutham (5444072)Mohamed Alsharshani (14778928)Usama AlAlami (17039846)Manar AlDewik (17760123)Tala Abuarja (17075070)Hilal Al Rifai (17760126)Nader I. Al‐Dewik (14778934)Biological sciencesGeneticsBiomedical and clinical sciencesNeurosciencesHuman societyHuman geographycopy number (CN) variationsSMASMN1SMN2SNPs<h2>Background</h2><p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population.</p><h2>Methods</h2><p dir="ltr">We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.</p><h2>Results</h2><p dir="ltr">The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%). In Addition 242/11379 (2.13%) had two copies of SMN1 and the rs143838139, which may explain the (2 + 0) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in SMN1 and SMN2, respectively.</p><h2>Conclusion</h2><p dir="ltr">The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.</p><p dir="ltr"><br></p><h2>Other Information</h2><p dir="ltr">Published in: Molecular Genetics & Genomic Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/mgg3.2184" target="_blank">https://dx.doi.org/10.1002/mgg3.2184</a></p>2023-11-15T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1002/mgg3.2184https://figshare.com/articles/journal_contribution/Studying_carrier_frequency_of_spinal_muscular_atrophy_in_the_State_of_Qatar_and_comparison_to_other_ethnic_groups_Pilot_study/24967059CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/249670592023-11-15T03:00:00Z |
| spellingShingle | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study Faisal Ibrahim (317415) Biological sciences Genetics Biomedical and clinical sciences Neurosciences Human society Human geography copy number (CN) variations SMA SMN1 SMN2 SNPs |
| status_str | publishedVersion |
| title | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| title_full | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| title_fullStr | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| title_full_unstemmed | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| title_short | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| title_sort | Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study |
| topic | Biological sciences Genetics Biomedical and clinical sciences Neurosciences Human society Human geography copy number (CN) variations SMA SMN1 SMN2 SNPs |