Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases
Bradley PowerBernadette R Gochuico

Abstract

Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1). Two frameshift variants in HPS1 (c.9delC and c.1477delA), one nonsense in HPS4 (c.416G > A), and one missense variant in TYR (c.1235C > T) were unreported. The child with HPS-4 is the first case with this subtype reported in the Chinese population. Hypopigmentation in patients with HPS was mild compared to that in OCA1 cases, who had severe pigment defects. Bruises, which may be more visible in patients with hypopigmentation, were found in all cases with either HPS or OCA1. Whole mount transmission electron microscopy demonstrated absent platelet dense granules in the HPS cases; up to 1.9 mean dense granules per platelet were found in those w...Continue Reading

References

Sep 1, 1990·Ophthalmic Paediatrics and Genetics·C J WitkopM Nuñez Babcock
Apr 1, 1988·Ophthalmology·C G SummersR A King
Apr 1, 1985·Human Pathology·R A SchinellaE P Fazzini
Jul 20, 2002·Molecular Genetics and Metabolism·William A GahlBernadette Gochuico
Mar 29, 2003·Human Genetics·Paul D AndersonWilliam A Gahl
Oct 8, 2005·The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation·David J LedererSelim M Arcasoy
Jan 19, 2006·The Journal of Investigative Dermatology·Pedro J Santiago BorreroCarmen L Cadilla
Nov 6, 2007·Orphanet Journal of Rare Diseases·Karen GrønskovKaren Brondum-Nielsen
Jun 12, 2008·Annual Review of Genomics and Human Genetics·Marjan HuizingWilliam A Gahl
Aug 15, 2008·Journal of Dermatological Science·Yu WangShi Lian
Sep 5, 2009·American Journal of Respiratory and Critical Care Medicine·Farshid N RouhaniBernadette R Gochuico
Jun 15, 2010·Journal of Pediatric Gastroenterology and Nutrition·L M FelipezS Guandalini
Oct 29, 2010·Pediatric Blood & Cancer·Pei-Wen ChiangMelissa Frei-Jones
Mar 23, 2011·Molecular Genetics and Metabolism·Kevin O'BrienWilliam A Gahl
Feb 13, 2014·European Journal of Human Genetics : EJHG·Karen GrønskovMarkus N Preising
Dec 17, 2015·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Victoria SorokinSamir Kahwash
Mar 6, 2016·Neurology·Wendy J IntroneCamilo Toro
Oct 27, 2016·Molecular Genetics and Metabolism·Kevin J O'BrienBernadette R Gochuico
Oct 22, 2016·British Journal of Haematology·Aleksandra Gil-KrzewskaKonrad Krzewski
Mar 6, 2017·Molecular Genetics and Metabolism·Melanie M BryanBernadette R Gochuico
Mar 28, 2018·Orphanet Journal of Rare Diseases·Meike HengstMatthias Griese
Jul 30, 2018·Molecular Genetics and Metabolism·Kevin J O'BrienBernadette R Gochuico

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Citations

Feb 1, 2019·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Anasuya GuhaMartin Chovanec
Jan 4, 2020·Human Mutation·Marjan HuizingBernadette R Gochuico
Dec 29, 2020·Frontiers in Genetics·Supranee ThongpraditDuangrurdee Wattanasirichaigoon
Jan 11, 2021·Journal of Internal Medicine·K J O'BrienB R Gochuico
Feb 5, 2021·European Respiratory Review : an Official Journal of the European Respiratory Society·Tadafumi Yokoyama, Bernadette R Gochuico
Apr 13, 2021·Frontiers in Pharmacology·Pamela Velázquez-DíazYang Zhou
Jul 3, 2021·Frontiers in Medicine·Lauren C TestaBernadette R Gochuico

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Methods Mentioned

BETA
exome sequencing
transmission electron microscopy

Clinical Trials Mentioned

NCT00369421
NCT00001456

Software Mentioned

CADD
Illumina Genome Analyzer Pipeline
SIFT
ExAC
PolyPhen
GnomAD
GenomeStudio
Mutation Taster
pMut

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