Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

Saito, Sonoko; Tanaka, Ryo; Sasaki, Takashi; Aoki, Seishiro; Yasuhara, Rieko; Nakayama, Yasuo; Nagai, Toshihiro; Sonobe, Hideki; Ozawa, Yoko; Kubo, Akiharu

doi:10.1111/1346-8138.15118

Cited by 3 publications

(2 citation statements)

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“…For this reason, patients with HPS present not only with albinism but also with systemic complications such as bleeding diathesis, pneumonia, colitis, and immune deficiency (Wei & Li, 2013). In Japan, 7 subtypes of HPS (HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9) have been identified so far (Araki et al., 2014; Kato et al., 2019; Miyamichi et al., 2016; Nishikawa et al., 2020; Okamura et al., 2018; Okamura, et al., 2019; Saito, et al., 2020; Saito et al., 2020) (Figure 2).…”

Section: Hpsmentioning

confidence: 99%

“…Patients with impaired BLOC‐2 (therefore HPS3, HPS5, and HPS6) are characterized by mild hypopigmentation of their skin, hair, and irises (Figure 2b‐d; Table 6). Even their platelet aggregation ability is sometimes also maintained (Michaud et al., 2017; Saito, et al., 2020). This is thought to be because BLOC‐2 functions downstream of BLOC‐1 in cargo transport (Marks et al., 2013).…”

Section: Hpsmentioning

confidence: 99%

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Current landscape of Oculocutaneous Albinism in Japan

Okamura

Suzuki

2020

Pigment Cell Melanoma Res

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Oculocutaneous albinism (OCA), which is roughly divided into non‐syndromic and syndromic OCA, is a group of autosomal recessive disorders caused by mutations in genes associated with pigmentation. Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky–Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional features of a bleeding tendency and other critical systemic comorbidities such as pulmonary fibrosis and immunodeficiency. NGS‐based gene analyses have identified several new causative genes for OCA and have detected rare subtypes of OCA with high accuracy including Japanese patients. In our survey of 190 Japanese OCA patients/families, OCA4 is the most common subtype (25.3%) followed by OCA1 (20.0%), HPS1 (14.7%), and OCA2 (8.4%). Similar to the A481T variant in OCA2, which is associated with a mild form of OCA2 and skin color variation, the c.‐492_489delAATG variant located in the promoter region of SLC45A2 has been uniquely identified in Japanese patients with a mild form of OCA4. Further, rare OCA subtypes, including OCA3, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9, have also been identified in Japanese patients. The clinical characteristics and underlying molecular mechanisms of each subtype of OCA are concisely summarized in this review.

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Section: Hpsmentioning

confidence: 99%

Section: Hpsmentioning

confidence: 99%

Current landscape of Oculocutaneous Albinism in Japan

Okamura

Suzuki

2020

Pigment Cell Melanoma Res

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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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New Progress in Molecular Genetics Research of Albinism

Cui,

Zhang,

et al. 2024

JCMP

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Albinism is a clinical and genetic heterogeneity disease associated with reduced melanin biosynthesis, characterized by visual system defects, manifested as poor vision, accompanied by varying degrees of pigment deficiency. The pigment deficiency can affect the eyes, skin, and hair in Oculocutaneous Albinism (OCA) or Oculocutaneous Albinosis (OA) that only affects the eyes. Currently, 21 genes related to albinism have been identified, including 7 OCA related genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, and DCT), 1 OA related gene (GPR143), 1 FHONDA (SLC38A8), 1 CHS related gene (LYST), and 11 PHS related genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6, AP3D1, and BLOC1S5). This article reviews the progress of molecular genetics research on albinism, with the aim of providing new ideas for prenatal or early diagnosis of albinism patients.

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Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

Cited by 3 publications

References 5 publications

Current landscape of Oculocutaneous Albinism in Japan

Current landscape of Oculocutaneous Albinism in Japan

Hermansky–Pudlak syndrome: Mutation update

New Progress in Molecular Genetics Research of Albinism

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