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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Authors
  • Mohammed, Mohammed1
  • Al-Hashmi, Nadia1
  • Al-Rashdi, Samiya2
  • Al-Sukaiti, Nashat1
  • Al-Adawi, Kawther3
  • Al-Riyami, Marwa3
  • Al-Maawali, Almundher4
  • 1 Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman. , (Oman)
  • 2 Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 3 Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 4 Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address: [email protected] , (Oman)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103583–103583
Identifiers
DOI: 10.1016/j.ejmg.2018.11.017
PMID: 30472485
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). HPS10 is a severe condition that manifests with symptoms of oculocutaneous albinism, neurodevelopmental delays, platelet dysfunction, and immunodeficiency. Herein we report on three affected individuals who presented with severe seizures, developmental delay, albinism, and immunodeficiency. Whole exome sequencing identified homozygosity for a deleterious sequence variant of high impact in AP3D1, c.1978delG, predicting p.Ala660Argfs*54 (NM_001261826.3). We further demonstrated an abnormal storage pathway in the platelets. The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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