Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome
Abstract Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA). Mutations in genes related to the synthesis of organelles connected to lysosomes cause this disease. Herein, we report a case of an...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2025-08-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-025-00761-0 |
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| author | Ensiyeh Bahadoran Mehrzad Ramezani Sahar Moghbelinejad |
| author_facet | Ensiyeh Bahadoran Mehrzad Ramezani Sahar Moghbelinejad |
| author_sort | Ensiyeh Bahadoran |
| collection | DOAJ |
| description | Abstract Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA). Mutations in genes related to the synthesis of organelles connected to lysosomes cause this disease. Herein, we report a case of an Iranian sibling pair with a mutation in the HPS1 gene. Case presentation A 26-year-old woman and her 24-year-old brother, both born to consanguineous parents, presented with OCA, nystagmus, and a history of easy bruising. Whole-exome sequencing identified a homozygous missense mutation (c.1754T > C, p.Leu585Pro) in the HPS1 gene. Segregation analysis confirmed that the parents were heterozygous carriers of this mutation. The clinical presentation and genetic findings supported the diagnosis of HPS-1. Conclusion Identification of the c.1754T > C (p.Leu585Pro) mutation in HPS1 in this family expands the genetic understanding of HPS. This case highlights the utility of next-generation sequencing in identifying novel genetic variants, which can aid in the diagnosis and management of rare syndromes such as HPS. Further functional studies are necessary to elucidate the implications of this mutation in disease pathogenesis. |
| format | Article |
| id | doaj-art-6d72a06a382f4622b2d46256df76e07e |
| institution | Kabale University |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-6d72a06a382f4622b2d46256df76e07e2025-08-20T04:03:01ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-08-012611610.1186/s43042-025-00761-0Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndromeEnsiyeh Bahadoran0Mehrzad Ramezani1Sahar Moghbelinejad2Cellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical SciencesKhatam Pathobiology and Genetic LabCellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical SciencesAbstract Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA). Mutations in genes related to the synthesis of organelles connected to lysosomes cause this disease. Herein, we report a case of an Iranian sibling pair with a mutation in the HPS1 gene. Case presentation A 26-year-old woman and her 24-year-old brother, both born to consanguineous parents, presented with OCA, nystagmus, and a history of easy bruising. Whole-exome sequencing identified a homozygous missense mutation (c.1754T > C, p.Leu585Pro) in the HPS1 gene. Segregation analysis confirmed that the parents were heterozygous carriers of this mutation. The clinical presentation and genetic findings supported the diagnosis of HPS-1. Conclusion Identification of the c.1754T > C (p.Leu585Pro) mutation in HPS1 in this family expands the genetic understanding of HPS. This case highlights the utility of next-generation sequencing in identifying novel genetic variants, which can aid in the diagnosis and management of rare syndromes such as HPS. Further functional studies are necessary to elucidate the implications of this mutation in disease pathogenesis.https://doi.org/10.1186/s43042-025-00761-0Hermansky–Pudlak syndromeAlbinismOculocutaneousGenetic mutationsHPS1 geneExome sequencing |
| spellingShingle | Ensiyeh Bahadoran Mehrzad Ramezani Sahar Moghbelinejad Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome Egyptian Journal of Medical Human Genetics Hermansky–Pudlak syndrome Albinism Oculocutaneous Genetic mutations HPS1 gene Exome sequencing |
| title | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome |
| title_full | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome |
| title_fullStr | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome |
| title_full_unstemmed | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome |
| title_short | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome |
| title_sort | homozygous hps1 variant in an iranian sibling pair with hermansky pudlak syndrome |
| topic | Hermansky–Pudlak syndrome Albinism Oculocutaneous Genetic mutations HPS1 gene Exome sequencing |
| url | https://doi.org/10.1186/s43042-025-00761-0 |
| work_keys_str_mv | AT ensiyehbahadoran homozygoushps1variantinaniraniansiblingpairwithhermanskypudlaksyndrome AT mehrzadramezani homozygoushps1variantinaniraniansiblingpairwithhermanskypudlaksyndrome AT saharmoghbelinejad homozygoushps1variantinaniraniansiblingpairwithhermanskypudlaksyndrome |