CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain.
Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738.
Schuurs-Hoeijmakers syndrome (SHMS) or Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identified SHMS individuals with the classical c.607C > T: p.Arg206Trp pathogenic variant and review clinical and molecular aspects of all the patients reported in the literature, providing a summary of clinical findings grouped as very frequent (≥75% of patients), frequent (50-74%), infrequent (26-49%) and rare (less than ≤25%).
舒尔斯-霍伊杰马瑟斯综合征（SHMS）或神经发育障碍是一种罕见的疾病，其特征为智力残疾、颅面特征异常和先天性畸形。SHMS 是一种常染色体显性遗传疾病，由基因中的致病性变异引起。PACS1 是一种跨高尔基膜运输调节剂，可指导蛋白质货物和几种病毒包膜蛋白。它在人类胚胎大脑发育过程中上调，出生后表达水平较低。迄今为止，仅报道了 54 例 SHMS 患者。在这项工作中，我们报告了 7 例新确诊的 SHMS 个体，携带经典的 c.607C > T：p.Arg206Trp 致病性变异，并回顾了文献中报道的所有患者的临床和分子方面，将临床发现总结为非常常见（≥75%的患者）、常见（50-74%）、不常见（26-49%）和罕见（≤25%）。
