Brief ObservationsA new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
Section snippets
Case reports
We admitted 49 Hermansky-Pudlak syndrome patients to the NIH Clinical Center under an Institutional Review Board-approved protocol (24). Patient 40, aged 20 years, and patient 42, aged 25 years, were brothers who had normal gestations, deliveries, and birth weights. Bilateral congenital hip dislocations, due to dysplastic acetabulae, required closed reduction in patient 40 and splinting in patient 42. The family was of Dutch origin with no known consanguinity or miscarriages. The brothers’
Discussion
We describe two brothers with oculocutaneous albinism, a bleeding tendency, mild pulmonary fibrosis, recurrent upper respiratory tract infections in childhood with persistent neutropenia, congenital hip dislocations, a mild balance defect and radial opacities of the ocular lens. Absence of platelet dense bodies supports the diagnosis of Hermansky-Pudlak syndrome (4), and the dermatologic, ocular, and pulmonary findings are reminiscent of a defect in HPS-1(Table 2)(24). However, frequent
Acknowledgements
Dr. Alvin Zipursky of the Hospital for Sick Children in Toronto, Ontario, cared for the 2 patients reported in this paper and first suggested the diagnosis of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. Drs. Michael Gorin of the University of Pittsburgh and Richard Swank of Roswell Park Cancer Institute kindly offered prepublication information concerning the mouse β3A gene. The authors appreciate the ophthalmologic consultation of Drs. Muriel I. Kaiser-Kupfer, Fumino Iwata, and
References (39)
- et al.
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrowreport of two cases with histochemical studies
Blood
(1959) - et al.
Mutation analysis of patients with Hermansky-Pudlak syndromea frameshift hot spot in the HPS gene and apparent locus heterogeneity
Am J Hum Genet
(1998) - et al.
Three new mutations in a gene causing Hermansky-Pudlak syndromeclinical correlations
Mol Gen Metab
(1998) - et al.
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
Am J Hum Genet
(1997) - et al.
Mutation in AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles
Neuron
(1998) - et al.
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor
Mol Cell
(1999) - et al.
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
Mol Genet Metab
(1999) - et al.
Partial albinism with immunodeficiency (Griscelli syndrome)
J Pediatr
(1994) - et al.
A syndrome associating partial albinism and immunodeficiency
Am J Med
(1978) - et al.
β3A-adaptin, a subunit of the adaptor-like complex AP-3
J Biol Chem
(1997)
The AP-3 complexa coat of many colours
Trends Cell Biol
Melanosomes are specialized members of the lysosomal lineage of organelles
J Invest Dermatol
Hermansky-Pudlak syndromemodels for intracellular vesicle formation
Mol Gen Metab
Albinism
Albinism and Hermansky-Pudlak syndrome in Puerto Rico
Bol Asoc Med P Rico-Agosto
Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
Am J Hemat
The Hermansky-Pudlak syndromeinclusions in circulating leucocytes
Br J Hemat
Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndromean ultrastructure study
Patho Int
Pathogenesis of pulmonary fibrosisplatelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome
J Lab Clin Med
Cited by (100)
Nucleotide Sugar Transporter SLC35 Family Structure and Function
2019, Computational and Structural Biotechnology JournalNatural killer cell biology illuminated by primary immunodeficiency syndromes in humans
2017, Clinical ImmunologyGenetic Diseases Predisposing to HLH
2014, Stiehm's Immune DeficienciesThe risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
2013, BloodCitation Excerpt :To assess the risk of HLH in human HPS2 patients, we performed a survey of all 12 so-far published patients with HPS2 and 10 additional, previously unreported patients (Table 1). For 5 patients, we had to rely on the information given in the published report2,7,14; for all other patients, a 2012 update on the clinical evolution of the disease was provided. The mean age at last follow-up was 10.6 years (range, 1.25-30 years) and the overall observation covered 234 patient years.
Hermansky-Pudlak syndrome type 4 with interstitial pneumonia
2013, Respiratory Medicine Case ReportsAbnormalities of Pigmentation
2013, Emery and Rimoin's Principles and Practice of Medical Genetics