Abstract：
UNASSIGNED: We report a case of Hermansky-Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1) and highlight the genetic challenges associated with this rare disorder.
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.
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.
摘要：
■我们报告了一例由肌缩短素结合蛋白1基因（DTNBP1）纯合变异引起的7型Hermansky-Pudlak综合征（HPS-7），并强调了与这种罕见疾病相关的遗传挑战。
■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。
■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。
