ST3GAL5基因中一个导致椒盐样发育倒退综合征（SPDRS）的新型移码致病变异：一例报告。
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.
作者信息
Manoochehri Jamal, Dastgheib Seyed Alireza, Khamirani Hossein Jafari, Mollaie Maryam, Sharifi Zahra, Zoghi Sina, Tabei Seyed Mohammad Bagher, Mohammadi Sanaz, Dehghanian Fatemeh, Farbod Zahra, Dianatpour Mehdi
机构信息
Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
Hum Genome Var. 2021 Aug 12;8(1):33. doi: 10.1038/s41439-021-00164-8.
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.
GM3合酶缺乏症与盐和胡椒发育倒退综合征（SPDRS）相关，后者是一种罕见的遗传疾病。在此，我们报告首例患有SPDRS的伊朗患者。我们检测到ST3GAL5基因的一种新型致病变异（NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11）。先证者有智力障碍（ID）、生长发育迟缓、脑萎缩、小头畸形和张力缺乏性癫痫发作。这项研究结果带来的主要未来挑战是对新发现变异进行产前检测；下一步将涉及进一步研究，以阐明SPDRS的表型谱，并检测可能导致从轻度到重度症状的新变异。
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