Homozygous promoter variant of <i>SLC45A2</i> causes diverse hair color and patterns

Hida, Tokimasa; Tsukamoto, Katsuhiko; Okura, Masae; Uhara, Hisashi

doi:10.1111/1346-8138.15509

Cited by 1 publication

(1 citation statement)

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“…So far, 14 patients have been diagnosed with this condition (14/48; 29.2% of total OCA4). Individuals with the 4‐bp deletion variant in homozygote have also been identified by our group and by another group [5 patients from 3 families so far (Hida et al., 2020; Okamura, et al., 2019). Those patients showed various degrees of hypopigmentation in their hair, skin, and eyes and revealed no eye manifestation except a slight photophobia.…”

Section: Frequency Of Oca Subtypes Among the Japanese Populationsupporting

confidence: 76%

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: Frequency Of Oca Subtypes Among the Japanese Populationsupporting

confidence: 76%