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The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.
- Source :
-
The Journal of dermatology [J Dermatol] 2021 May; Vol. 48 (5), pp. 676-680. Date of Electronic Publication: 2021 Feb 04. - Publication Year :
- 2021
-
Abstract
- Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population. He had brownish-yellow hair, white skin, brown irises with visual acuity, photophobia and nystagmus. Two novel variants, c.148G>T (p.Glu50*) and c.351dupT (p.Ile118Tyrfs*10) in BLOC1S6 gene were identified by whole-exome sequencing (WES). Absence of platelet dense granules was found by whole-mount platelet electron microscopy and Western blotting assays showed the destabilized BLOC-1 subunits. He had recurrent bruising and was found to have abnormal brain waves by electroencephalogram, but did not develop thrombopenia, immunodeficiency or other symptoms reported in other HPS-9 patients. This is the first case report of BLOC-1 mutation in a Chinese population and our findings expand the mutational spectrum of HPS genes.<br /> (© 2021 Japanese Dermatological Association.)
Details
- Language :
- English
- ISSN :
- 1346-8138
- Volume :
- 48
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- The Journal of dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 33543539
- Full Text :
- https://doi.org/10.1111/1346-8138.15762