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

Pigment Cell & Melanoma Research
Perrine PennamenBenoit Arveiler

Abstract

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).

References

Dec 31, 2005·American Journal of Human Genetics·Neil V MorganEamonn R Maher
Jun 20, 2012·Pigment Cell & Melanoma Research·Andrew R CullinaneWilliam A Gahl
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 6, 2017·Molecular Genetics and Metabolism·Melanie M BryanBernadette R Gochuico
Jan 19, 2018·Pigment Cell & Melanoma Research·Eulalie LasseauxBenoît Arveiler
Jan 4, 2020·Human Mutation·Marjan HuizingBernadette R Gochuico
Jun 23, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Perrine PennamenBenoit Arveiler

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Citations

Sep 25, 2020·Pigment Cell & Melanoma Research·Ken Okamura, Tamio Suzuki
May 28, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·E Moreno-ArteroS Hadj-Rabia

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