Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.
Platelets
; 31(7): 960-963, 2020 Oct 02.
Article
em En
| MEDLINE
| ID: mdl-31880485
ABSTRACT
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD). We report a case of 4-year-old boy from non-consanguineous parents with OCA and negative personal and familiar hemorrhagic history, referred to us for severe bleeding after mild trauma. His platelet function, studied by lumi-aggregometry, showed normal first wave of aggregation in response to exogenous agonists and impaired second wave with defective ATP release. This, in combination with impaired platelet δ-granules content (serotonin, ATP, ADP) and the OCA phenotype suggested the HPS diagnosis. HPS3 sequencing revealed a novel pathogenic homozygous variant (NM_032383.4c.7>T, p.Gln3*) resulting in a premature stop codon at the amino acid 3. Moreover, our report highlights the importance of evaluating platelet function in children with OCA without bleeding diathesis to identify HPS early and prevent bleeding complications.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Síndrome de Hermanski-Pudlak
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Peptídeos e Proteínas de Sinalização Intracelular
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article