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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 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.

SUBMITTER: Manoochehri J

PROVIDER: S-EPMC8361121 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Manoochehri Jamal J Dastgheib Seyed Alireza SA Khamirani Hossein Jafari HJ Mollaie Maryam M Sharifi Zahra Z Zoghi Sina S Tabei Seyed Mohammad Bagher SMB Mohammadi Sanaz S Dehghanian Fatemeh F Farbod Zahra Z Dianatpour Mehdi M

Human genome variation 20210812 1

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 ...[more]

PMID: 34385424

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Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, <i>ST3GAL5</i> Gene in a Saudi Family Causing Salt and Pepper Syndrome.

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