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Hermansky–Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula
Author(s) -
Khan A. O.,
Tamimi M.,
Lenzner S.,
Bolz H. J.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12715
Subject(s) - abu dhabi , medicine , optometry , ophthalmology , library science , pathology , metropolitan area , computer science
To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date, most of which are associated with isolated oculocutaneous albinism (OCA). While mutations in some genes are more common in certain regions of the world, increasingly all known genes for OCA are being associated with OCA worldwide. Rarely, albinism is part of recessive syndromic disease such as Hermansky–Pudlak syndrome (HPS), a ceroid