Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

Autor:	Rodrigues R; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal., Quental R; Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal., Santos Silva R; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal., Costa L; Immunohemotherapy Department, Centro Hospitalar Universitário de São João, Porto, Portugal., Estrela-Silva S; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal.
Jazyk:	angličtina
Zdroj:	Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 262-266. Date of Electronic Publication: 2023 Dec 14.
DOI:	10.1080/13816810.2023.2291670
Abstrakt:	Purpose: 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. Methods: 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. Results: 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. Conclusion: 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.
Databáze:	MEDLINE
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