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_032383.4:c.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.
| Original language | English |
|---|---|
| Journal | Platelets |
| DOIs | |
| Publication status | Accepted/In press - Jan 1 2019 |
Keywords
- Bleeding
- Blood Platelet Disorder
- Hermansky-Pudlak Syndrome (HPS)
- Platelet Function Test
- Platelet δ-granules
ASJC Scopus subject areas
- Hematology
Cite this
Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3. / Lecchi, Anna; La Marca, Silvia; Femia, Eti A.; Lenz, Antonia; Boeckelmann, Doris; Artoni, Andrea; Peyvandi, Flora; Zieger, Barbara.
In: Platelets, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3
AU - Lecchi, Anna
AU - La Marca, Silvia
AU - Femia, Eti A.
AU - Lenz, Antonia
AU - Boeckelmann, Doris
AU - Artoni, Andrea
AU - Peyvandi, Flora
AU - Zieger, Barbara
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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_032383.4:c.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.
AB - 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_032383.4:c.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.
KW - Bleeding
KW - Blood Platelet Disorder
KW - Hermansky-Pudlak Syndrome (HPS)
KW - Platelet Function Test
KW - Platelet δ-granules
UR - http://www.scopus.com/inward/record.url?scp=85077386190&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85077386190&partnerID=8YFLogxK
U2 - 10.1080/09537104.2019.1704716
DO - 10.1080/09537104.2019.1704716
M3 - Article
C2 - 31880485
AN - SCOPUS:85077386190
JO - Platelets
JF - Platelets
SN - 0953-7104
ER -