Mai Jingqun, Zhang Zhu, Xu Bocheng, Liu Shanling, Wang He, Wang Hao, Yang Shuo
Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Front Genet. 2025 Mar 19;16:1465527. doi: 10.3389/fgene.2025.1465527. eCollection 2025.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis. HPS3 is caused by biallelic mutations in . Patients with HPS3 have milder symptoms and were rarely reported to be involved in digestive disorders.
We report a case of an 11-year-old male patient who experienced chronic diarrhea and abdominal pain for a duration of 1 year, in the absence of identifiable predisposing factors. Colonoscopy and histopathological evaluations revealed extensive colonic inflammation characterized by erosion and lymphoid hyperplasia. Given the concurrent presence of albinism, horizontal nystagmus, and inflammatory bowel disease (IBD), molecular genetic testing was conducted, which is consistent with a diagnosis of Hermansky-Pudlak syndrome (HPS). Trio-based whole-exome sequencing (Trio-WES) identified a novel homozygous nonsense variant (NM_032383.5; c.2887G > T, p.E963*) in , leading to premature termination codons and aberrant splicing-mediated mRNA decay. The patient was treated with corticosteroids and mercaptopurine for management of IBD symptoms and has been attending follow-up appointments. Currently, the patient is in clinical remission; however, there remains a potential risk of relapse.
We present a rare case of HPS-related IBD resulting from a homozygous variant in and provide insights into the understanding of the diagnosis and treatment of HPS3.
Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性疾病，具有表型和遗传异质性，其特征为眼皮肤白化病、出血素质以及其他特定亚型，如结肠炎。HPS3是由[具体基因]的双等位基因突变引起的。HPS3患者症状较轻，很少有报道涉及消化系统疾病。
我们报告一例11岁男性患者，他在无明确诱发因素的情况下经历了1年的慢性腹泻和腹痛。结肠镜检查和组织病理学评估显示广泛的结肠炎症，其特征为糜烂和淋巴组织增生。鉴于同时存在白化病、水平性眼球震颤和炎症性肠病（IBD），进行了分子基因检测，结果与Hermansky-Pudlak综合征（HPS）的诊断一致。基于三联体的全外显子组测序（Trio-WES）在[具体基因]中鉴定出一个新的纯合无义变异（NM_032383.5；c.2887G>T，p.E963*），导致过早终止密码子和异常剪接介导的mRNA降解。该患者接受了皮质类固醇和巯嘌呤治疗以控制IBD症状，并一直在接受随访。目前，患者处于临床缓解期；然而，仍有复发的潜在风险。结论：我们报告了一例由[具体基因]纯合变异导致的罕见的HPS相关IBD病例，并为理解HPS3的诊断和治疗提供了见解。
