Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2

Abstract

Abstract Background Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive inherited disease present with partial oculocutaneous albinism, nystagmus, prolonged bleeding time, and immunodeficiency. Case presentation We aimed at identifying a genetic mutation in an Iraqi family affected by HPS type 2. Here, we applied whole-exome sequencing to identify mutations in the proband. Moreover, we applied Sanger sequencing to confirm the candidate variant. We found a homozygous novel single nucleotide substitution (c.892A > T) in the exon 8 of the AP3B1 gene in the proband. Conclusion This study is the first Iraqi case report of a diagnosis of HPS type 2 caused by AP3B1 mutation. Our data expand the spectrum of mutations in AP3B1 gene in HPS type 2 and highlight the importance of molecular prenatal evaluation and relevant genetic counseling.