A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report
Abstract GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proba...
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Nature Publishing Group
2021-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00164-8 |
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doaj-0ddf93c5e389419abf769016b5259ae22021-08-15T11:33:39ZengNature Publishing GroupHuman Genome Variation2054-345X2021-08-01811410.1038/s41439-021-00164-8A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case reportJamal Manoochehri0Seyed Alireza Dastgheib1Hossein Jafari Khamirani2Maryam Mollaie3Zahra Sharifi4Sina Zoghi5Seyed Mohammad Bagher Tabei6Sanaz Mohammadi7Fatemeh Dehghanian8Zahra Farbod9Mehdi Dianatpour10Department of Genetics, Fars Science and Research Branch, Islamic Azad UniversityDepartment of Medical Genetics, Shiraz University of Medical SciencesComprehensive Medical Genetic Center, Shiraz University of Medical SciencesStudent Research Committee, Shiraz University of Medical SciencesStudent Research Committee, Shiraz University of Medical SciencesStudent Research Committee, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesComprehensive Medical Genetic Center, Shiraz University of Medical SciencesComprehensive Medical Genetic Center, Shiraz University of Medical SciencesComprehensive Medical Genetic Center, Shiraz University of Medical SciencesDepartment of Medical Genetics, Shiraz University of Medical SciencesAbstract GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proband had intellectual disability (ID), failure to thrive, cerebral atrophy, microcephaly, and atonic seizures. The main future challenge proceeding from the results of this study is the prenatal detection of the newly discovered variant; the next step would involve further studies to elucidate the phenotypic spectrum of SPDRS and detect new variants that could cause symptoms ranging from mild to severe.https://doi.org/10.1038/s41439-021-00164-8 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Jamal Manoochehri Seyed Alireza Dastgheib Hossein Jafari Khamirani Maryam Mollaie Zahra Sharifi Sina Zoghi Seyed Mohammad Bagher Tabei Sanaz Mohammadi Fatemeh Dehghanian Zahra Farbod Mehdi Dianatpour |
| spellingShingle |
Jamal Manoochehri Seyed Alireza Dastgheib Hossein Jafari Khamirani Maryam Mollaie Zahra Sharifi Sina Zoghi Seyed Mohammad Bagher Tabei Sanaz Mohammadi Fatemeh Dehghanian Zahra Farbod Mehdi Dianatpour A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report Human Genome Variation |
| author_facet |
Jamal Manoochehri Seyed Alireza Dastgheib Hossein Jafari Khamirani Maryam Mollaie Zahra Sharifi Sina Zoghi Seyed Mohammad Bagher Tabei Sanaz Mohammadi Fatemeh Dehghanian Zahra Farbod Mehdi Dianatpour |
| author_sort |
Jamal Manoochehri |
| title |
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report |
| title_short |
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report |
| title_full |
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report |
| title_fullStr |
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report |
| title_full_unstemmed |
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report |
| title_sort |
novel frameshift pathogenic variant in st3gal5 causing salt and pepper developmental regression syndrome (spdrs): a case report |
| publisher |
Nature Publishing Group |
| series |
Human Genome Variation |
| issn |
2054-345X |
| publishDate |
2021-08-01 |
| description |
Abstract GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proband had intellectual disability (ID), failure to thrive, cerebral atrophy, microcephaly, and atonic seizures. The main future challenge proceeding from the results of this study is the prenatal detection of the newly discovered variant; the next step would involve further studies to elucidate the phenotypic spectrum of SPDRS and detect new variants that could cause symptoms ranging from mild to severe. |
| url |
https://doi.org/10.1038/s41439-021-00164-8 |
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