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退化综合征 (SPDRS) 相关，SPDRS 是一种罕见的遗传疾病。在此，我们报告了伊朗首位 SPDRS 患者。我们检测到一种新的 ST3GAL5 致病性变异（ NM_003896.4：c.1030_1031del，p.Ile344Cysfs*11）。先证者有智力障碍 (ID)、发育迟缓、脑萎缩、小头畸形和失张力性癫痫发作。这项研究结果带来的未来主要挑战是对新发现的变异进行产前检测；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微到严重的症状的新变体。