Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation
Abstract Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM all...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-03-01
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| Series: | BMC Women's Health |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12905-022-01632-1 |
| _version_ | 1818915596176195584 |
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| author | Neelam Meraj Muhammad Yasin Zia Ur Rehman Haleema Tahir Humaira Jadoon Niamat Khan Rabia Shahid Maria Zubair Irba Zulfiqar Musarrat Jabeen Shahzadi Neelam Abdul Hameed Shamim Saleha |
| author_facet | Neelam Meraj Muhammad Yasin Zia Ur Rehman Haleema Tahir Humaira Jadoon Niamat Khan Rabia Shahid Maria Zubair Irba Zulfiqar Musarrat Jabeen Shahzadi Neelam Abdul Hameed Shamim Saleha |
| author_sort | Neelam Meraj |
| collection | DOAJ |
| description | Abstract Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to full mutation alleles (> 200 repeats) during maternal transmission. Methods In present study fragile X PM carrier screening was performed in total 808 women who were consulting primary health care centers for preconception care in Khyber Pakhtunkhwa region of Pakistan between April, 2018 and December, 2020. Polymerase chain reaction (PCR) was performed for detection of PM carrier women and the CGG repeats number was confirmed by Southern blotting and capillary electrophoresis. Results The prevalence rate for PM carriers among preconception women was found to be 0.7% that was contributed by 0.5% women in risk group (RG1) with family history of ID and 0.2% in risk group 2 (RG2) with family history of ASD. PM carrier women had at least one affected child or sibling. In addition, the preconception women with FMR1 PM alleles were found to be at increased risk for primary ovary insufficiency (RG1: P = 0.0265, RG2: P = 0.0389), postpartum depression (RG1: P = 0.0240, RG2: P = 0.0501) and neuropsychiatric disorders (RG1: P = 0.0389, RG2: P = 0.0432). Conclusions Current study provides first evidence of fragile X PM carrier screening in Pakistani preconception women in primary care consultation. Findings of current study may help to improve preconception care and to reduce burden of fragile X associated disorders in our population. |
| first_indexed | 2024-12-20T00:04:47Z |
| format | Article |
| id | doaj.art-d5463ef7ff8a4abdb5d5020e90776817 |
| institution | Directory Open Access Journal |
| issn | 1472-6874 |
| language | English |
| last_indexed | 2024-12-20T00:04:47Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Women's Health |
| spelling | doaj.art-d5463ef7ff8a4abdb5d5020e907768172022-12-21T20:00:40ZengBMCBMC Women's Health1472-68742022-03-012211910.1186/s12905-022-01632-1Fragile X premutation carrier screening in Pakistani preconception women in primary care consultationNeelam Meraj0Muhammad Yasin1Zia Ur Rehman2Haleema Tahir3Humaira Jadoon4Niamat Khan5Rabia Shahid6Maria Zubair7Irba Zulfiqar8Musarrat Jabeen9Shahzadi Neelam10Abdul Hameed11Shamim Saleha12Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Obstetrics and Gynecology, Ayub Medical InstituteDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Department of Obstetrics and Gynecology, Liaqat Memorial Hospital, KIMSDepartment of Obstetrics and Gynecology, Qazi Ahmed Medical ComplexInstitute of Biomedical and Genetic Engineering (IBGE)Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Abstract Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to full mutation alleles (> 200 repeats) during maternal transmission. Methods In present study fragile X PM carrier screening was performed in total 808 women who were consulting primary health care centers for preconception care in Khyber Pakhtunkhwa region of Pakistan between April, 2018 and December, 2020. Polymerase chain reaction (PCR) was performed for detection of PM carrier women and the CGG repeats number was confirmed by Southern blotting and capillary electrophoresis. Results The prevalence rate for PM carriers among preconception women was found to be 0.7% that was contributed by 0.5% women in risk group (RG1) with family history of ID and 0.2% in risk group 2 (RG2) with family history of ASD. PM carrier women had at least one affected child or sibling. In addition, the preconception women with FMR1 PM alleles were found to be at increased risk for primary ovary insufficiency (RG1: P = 0.0265, RG2: P = 0.0389), postpartum depression (RG1: P = 0.0240, RG2: P = 0.0501) and neuropsychiatric disorders (RG1: P = 0.0389, RG2: P = 0.0432). Conclusions Current study provides first evidence of fragile X PM carrier screening in Pakistani preconception women in primary care consultation. Findings of current study may help to improve preconception care and to reduce burden of fragile X associated disorders in our population.https://doi.org/10.1186/s12905-022-01632-1FMR1PM carrier screeningFragile X associated disordersRisk groupsPakistani preconception women |
| spellingShingle | Neelam Meraj Muhammad Yasin Zia Ur Rehman Haleema Tahir Humaira Jadoon Niamat Khan Rabia Shahid Maria Zubair Irba Zulfiqar Musarrat Jabeen Shahzadi Neelam Abdul Hameed Shamim Saleha Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation BMC Women's Health FMR1 PM carrier screening Fragile X associated disorders Risk groups Pakistani preconception women |
| title | Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation |
| title_full | Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation |
| title_fullStr | Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation |
| title_full_unstemmed | Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation |
| title_short | Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation |
| title_sort | fragile x premutation carrier screening in pakistani preconception women in primary care consultation |
| topic | FMR1 PM carrier screening Fragile X associated disorders Risk groups Pakistani preconception women |
| url | https://doi.org/10.1186/s12905-022-01632-1 |
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