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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2021-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00164-8

Internet

https://doi.org/10.1038/s41439-021-00164-8

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