Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising
Fahad Abdullah Wajdi, Deena Mohammed Hasanain, Hassan Musa Masmali.
Abstract
Background: Hermansky-Pudlak syndrome (HPS) is an inherited multisystem disorder, which includes oculocutaneous albinism that might result from mutations in any 1 of at least 10 different genes. Biallelic mutations in AP3B1 on chromosome 5q14.1 are linked to HPS type 2 (HPS2). Lysosomal-related cell dysfunctions are caused by the AP3B1 gene mutation, which causes the adaptor protein 3 complex to form insufficiently.
Case Presentation: A case of a 6-year-old Saudi girl was reported with frequent nasal bleeding and skin bruises. On examination, the patient looked syndromic with hypopigmentation, brown hair, wearing glasses, had no nystagmus, and green iris. The whole-exome sequencing study results showed a novel homozygous mutation in AP3B1 gene c3173T
Key words: Hermansky-Pudlak syndrome type 2, mutation, neutropenia, hypopigmentation.
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