Hermasky-Pudlak Syndrome type-2 and oculocutaneous albinism in Saudi child with pigmentation defect and easy bruising

Background: 
Hermansky-Pudlak Syndrome (HPS) is an inherited multisystem disorder, which includes oculocutaneous albinism that might result from mutations in any one of at least ten different genes. Biallelic mutations in AP3B1 on chromosome 5q14.1 are linked to Hermansky-Pudlak syndrome type 2. Lysosomal-related cell dysfunctions are caused by the AP3B1 gene mutation, which causes the adaptor protein 3 (AP-3) complex to form insufficiently.
Case presentation: 
A case of six-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