PENNAMEN, Perrine; TINGAUD-SEQUEIRA, Angele; MICHAUD, Vincent; MORICE-PICARD, Fanny; PLAISANT, Claudio; VINCENT-DELORME, Catherine; GIULIANO, Fabienne; AZARNOUSH, Saba; CAPRI, Yline; MARCON, Carolina; LACOMBE, Didier; LASSEAUX, Eulalie; ARVEILER, Benoit

doi:10.1111/pcmr.12915

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PENNAMEN, Perrine

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

TINGAUD-SEQUEIRA, Angele
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

MICHAUD, Vincent

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

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Pigment Cell & Melanoma research. 2021-01, vol. 34, n° 1, p. 132-135

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Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS-8 consanguineous families with different homozygous pathogenic variants in BLOC1S3 (NM_212550.3), one of which is novel. These comprise two deletions leading to a reading frameshift (c.385_403del, c.338_341del) and one in frame deletion (c.444_467del). All patients have moderate oculocutaneous albinism and bleeding diathesis, but other HPS symptoms are not described. One patient diagnosed with HPS-8 suffered from lymphocyte-predominant Hodgkin lymphoma. The mild severity of HPS-8 is consistent with other HPS forms caused by variants in BLOC-1 complex coding genes (HPS-7, DTNBP1; HPS-9, BLOC1S6, HPS-11, BLOC1S5).< Réduire

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Albinism

BLOC1S3

Hermansky-Pudlak syndrome

HPS-8

Platelet dense granule deficiency

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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome

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