Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

Summers, C. Gail; Schimmenti, Lisa A.; Sperber, Steven

doi:10.1016/j.jaapos.2013.02.002

Cited by 14 publications

(8 citation statements)

References 8 publications

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“…Overall, the five HPS patients had similar phenotypes. The patients with HPS‐5 only had slight systemic symptoms (frequent ecchymoses, episodic abdominal pain) showing a mild phenotype compared to HPS‐1, as recently described in literature (Huizing et al., ; Korswagen, Huizing, Simsek, Janssen, & Zweegman, ; Michaud et al., ; Ringeisen, Schimmenti, White, Schoonveld, & Summers, ; Stephen et al., ). The patient with HPS‐6 had frequent bruises, bleedings and dyspnoea on exertion.…”

Section: Discussionsupporting

confidence: 61%

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

Marti

Lasseaux

Ezzedine

et al. 2017

Pigment Cell Melanoma Res

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Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.

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Section: Discussionsupporting

confidence: 61%

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

Marti

Lasseaux

Ezzedine

et al. 2017

Pigment Cell Melanoma Res

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“…We previously reported that hypopigmented mice with Hps5 gene deficiency, ruby-eye 2 (ru2), tended to develop colitis [17], while patients with HPS1 and HPS4 also developed granulomatous colitis [16]. However, only a few patients with HPS5, as well as HPS3, have experienced similar gastrointestinal symptoms [2,12,13,[18][19][20][21][22]. The Japanese patient in the present study also did not show such indications, suggesting that colitis associated with HPS5 deficiency might be a specific phenotype in mice.…”

Section: Discussioncontrasting

confidence: 53%

New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient

Kato

Aoe

Hamamoto

et al. 2019

Reports

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The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1–3 and adapter protein 3. Here, we report a Japanese patient with HPS associated with mild hypopigmentation, nystagmus, and impaired visual acuity. Sequencing analyses of the mRNA of this patient revealed new deletions (ΔGA and ΔG) in the HPS5 gene. This was the first case of HPS5 gene deficiency in Japan, and the two above-mentioned deletions have not yet been reported among patients with HPS5.

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“…BLOC‐2 deficient individuals may get medical attention only for a bleeding diathesis and may be classified as storage pool deficiency, as illustrated by new diagnoses of HPS‐5 in 92‐ and 65‐year‐old individuals with histories of excessive bleeding (Botero et al, 2018; Ringeisen et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Hermansky–Pudlak syndrome: Mutation update

et al. 2020

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Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defective protein complex. Pulmonary fibrosis is associated with AP-3 and BLOC-3 deficiency, immunodeficiency with AP-3 defects, and gastrointestinal symptoms are more prevalent and severe in BLOC-3 deficiency. Therefore, identification of the HPS subtype is valuable for prognosis, clinical management, and treatment options. The prevalence of HPS is estimated at 1-9 per 1,000,000. Here we summarize 264 reported and novel variants in 10 HPS genes and estimate that~333 Puerto Rican HPS subjects and~385 with other ethnicities are reported to date. We provide pathogenicity predictions for missense and splice site variants and list variants with high minor allele frequencies. Current cellular and clinical aspects of HPS are also summarized. This review can serve as a manifest for molecular diagnostics and genetic counseling aspects of HPS.

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Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

Cited by 14 publications

References 8 publications

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient

Hermansky–Pudlak syndrome: Mutation update

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