UNASSIGNED: Case report. Literature review was performed by searching PubMed on May 2023, without language or date restriction, using the following terms: Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome type 7, and dystrobrevin-binding protein 1 gene.
UNASSIGNED: We report a case of a 69-year-old Portuguese female who presented for ophthalmic evaluation with long-standing severe visual impairment, pronounced photophobia, right-eye esotropia, and bilateral pendular nystagmus. Anterior segment examination revealed iris transillumination defects, while the ocular fundus showed hypopigmentation and the absence of the foveal reflex. The patient had a history of oculocutaneous albinism (OCA) and recurrent epistaxis. Her family history was positive for first-degree consanguineous parents and a deceased sister at young age who also exhibited OCA and recurrent epistaxis. Genetic testing identified a homozygous pathogenic nonsense variant in the DTNBP1, c.307C>T p.(Gln103*). The patient\'s clinical features and genetic testing support the diagnosis of HPS-7. The identified variant has been previously reported in the literature, in adult patients of Portuguese descent.
UNASSIGNED: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.
■病例报告。文献综述是在2023年5月通过搜索PubMed进行的,没有语言或日期限制,使用以下术语:Hermansky-Pudlak综合征,Hermansky-Pudlak综合征7型,和肌短菌素结合蛋白1基因。
我们报告了一例69岁的葡萄牙女性,因长期严重的视力障碍而接受眼科评估,明显的畏光,右眼内斜视,和双侧摆动性眼球震颤。前节检查显示虹膜透照缺陷,而眼底表现为色素减退和中央凹反射的缺失。该患者有眼皮肤白化病(OCA)和复发性鼻出血的病史。她的家族史对一级血缘关系的父母和年轻时已故的姐姐呈阳性,他们也表现出OCA和复发性鼻出血。遗传测试在DTNBP1,c.307C>Tp.(Gln103*)中鉴定了纯合致病性无义变体。患者的临床特征和基因检测支持HPS-7的诊断。已鉴定的变体先前已在文献中报道,葡萄牙血统的成年患者。
■这项工作突出了HPS-7的遗传复杂性,并强调了基因检测在诊断这种罕见疾病中的重要性。罕见致病变异的鉴定扩大了我们对HPS-7遗传学的理解,并暗示了葡萄牙人口中可能的创始人效应。