Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

نویسندگان

  • A O Khan
  • M Tamimi
  • S Lenzner
  • H J Bolz
چکیده

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

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عنوان ژورنال:
  • Clinical genetics

دوره 90 1  شماره 

صفحات  -

تاریخ انتشار 2016