{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T15:39:37Z","timestamp":1780760377564,"version":"3.54.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T00:00:00Z","timestamp":1632528000000},"content-version":"vor","delay-in-days":267,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2020JJ5785"],"award-info":[{"award-number":["2020JJ5785"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000427"],"award-info":[{"award-number":["82000427"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Hermansky\u2010Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome\u2010related organelles, such as melanosomes and platelet\u2010dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. At present, mutations in ten known genetic loci (<jats:italic>HPS1\u201311<\/jats:italic>) have been identified to be the genetic cause of HPS. In this study, we enrolled a consanguineous family who presented with typical HPS phenotypes, such as albinism, visual impairment, nystagmus, and bleeding diathesis. Whole\u2010exome sequencing and Sanger sequencing were applied to explore the genetic lesions of the patient. A novel homozygous frameshift mutation (NM_032383.5, c.1231dupG\/p.Aps411GlyfsTer32) of <jats:italic>HPS3<\/jats:italic> was identified and cosegregated in the family members. Furthermore, real\u2010time PCR confirmed that the mutation decreased the expression of <jats:italic>HPS3<\/jats:italic>, which has been identified as the disease\u2010causing gene of HPS type 3. According to ACMG guidelines, the novel mutation, resulting in a premature stop codon at amino acid 442, is a pathogenic variant. In summary, we identified a novel mutation (NM_032383.5, c.1231dupG\/p.Aps411GlyfsTer32) of <jats:italic>HPS3<\/jats:italic> in a family with HPS. Our study expanded the variant spectrum of the <jats:italic>HPS3<\/jats:italic> gene and contributed to genetic counseling and prenatal genetic diagnosis of the family.<\/jats:p>","DOI":"10.1155\/2021\/4535349","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T18:05:06Z","timestamp":1632593106000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Whole\u2010Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <i>HPS3<\/i> in a Consanguineous Family with Hermansky\u2010Pudlak 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