Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life

Gillian C. Lowe; Isabel Sánchez Guiu; Oliver Chapman; José Rivera; Marie Lordkipanidzé; Natalia Dovlatova; Jonathan Wilde; Steve P. Watson; Neil V. Morgan; on behalf of the UK GAPP collaborative

doi:10.1160/TH12-11-0876

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2013; 109(04): 766-768
DOI: 10.1160/TH12-11-0876

Letters to the Editor

Schattauer GmbH

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life

Gillian C. Lowe^*

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

,

Isabel Sánchez Guiu^*

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

²Regional Blood Donation Centre and University of Murcia, Spain

,

Oliver Chapman

³Haemophilia Centre, University Hospitals Coventry and Warwickshire NHS Trust, Clifford Bridge Road, Coventry, UK

,

José Rivera

²Regional Blood Donation Centre and University of Murcia, Spain

,

Marie Lordkipanidzé

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

,

Natalia Dovlatova

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

⁴Thrombosis and Haemostasis Research Group, Queen’s Medical Centre, University of Nottingham, Nottingham, UK

,

Jonathan Wilde

⁵West Midlands Adult Haemophilia Comprehensive Care Centre, University Hospital Birmingham, Edgbaston, Birmingham, UK

,

Steve P. Watson

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

,

Neil V. Morgan

¹Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK

,

on behalf of the UK GAPP collaborative

› Author Affiliations

Abstract

Full Text

References

References
1 Davies BH, Tuddenham EG. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. Q J Med 1976; 45: 219-232.
2 Dell’Angelica EC. The building BLOC(k)s of lysosomes and related organelles. Curr Opin Cell Biol 2004; 16: 458-464.
3 Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42.
4 Witkop CJ, Almadovar C, Pineiro B. et al. Hermansky-Pudlak syndrome (HPS). An epidemiologic study. Ophthalmic Paediatr Genet 1990; 11: 245-250.
5 Morgan NV, Pasha S, Johnson CA. et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006; 78: 160-166.
6 Dawood BB, Lowe GC, Lordkipanidzé M. et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 2012; 120: 5041-5049.
7 Swank RT, Sweet HO, Davisson MT. et al. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res 1991; 58: 51-62.
8 Li W, Zhang Q, Oiso N. et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003; 35: 84-89.
9 Hermos CR, Huizing M, Kaiser-Kupfer MI. et al. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002; 20: 482.
10 Anderson PD, Huizing M, Claassen DA. et al. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003; 113: 10-17.
11 Gochuico BR, Huizing M, Golas GA. et al. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med 2012; 18: 56-64.

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