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Identification of 12 OCA Cases in Chinese Population and Two Novel Variants

Frontiers in Genetics, 2022 · DOI: 10.3389/fgene.2022.926511 · Published: July 12, 2022

GeneticsDermatology

Simple Explanation

OCA (oculocutaneous albinism) refers to a group of heterogeneous congenital disorders of which the common manifestations are variable degrees of cutaneous hypopigmentation and significant visual impairment, including poor visual acuity, photophobia, and nystagmus. Molecular analysis may elucidate its pathogenesis and be in favor of accurate diagnosis. This study may facilitate OCA diagnosis by expanding the mutational spectrum of TYR and OCA2 as well as further basic studies about these two genes.

Study Duration
Not specified
Participants
12 unrelated patients with oculocutaneous albinism
Evidence Level
Not specified

Key Findings

  • 1
    Ten TYR-related and two OCA2-related patients were identified with 16 different variants with potential pathogenicity.
  • 2
    Two novel missense variants [TYR: c.623T > G, p(Leu208Arg) and OCA2: c.1325A > G, p(Asn442Ser)] are identified in this study, and three OCA cases are reported for the first time in Chinese population based on their associated variants.
  • 3
    Analysis of crystal structures of TYR ortholog and its paralog TYRP1 suggests that the substitution of Leu208 may have an impact on protein stability.

Research Summary

In this study, in total, sixteen variants were detected in twelve OCA cases including fourteen recurrent variants and two novel variants. In summary, we reported sixteen different variants in twelve OCA cases, including two novel OCA-related variants and three cases reported for the first time based on their associated variants, which can be in favor of OCA diagnosis by expanding the phenotypic and mutational spectrum. In addition, the analysis of available crystal structures implies that Leu208, affected by the novel variant TYR: c.623T > G, may play an important role in the stability of TYR.

Practical Implications

Improved OCA Diagnosis

Expanding the mutational spectrum of TYR and OCA2 aids in more accurate diagnosis of OCA.

Understanding Genetic Basis

Identifying novel variants and their impact on protein structure contributes to a better understanding of the genetic basis of albinism.

Personalized Medicine

The study of variants and their correlation to hair and skin phenotypes may contribute to a more personalized approach to diagnosis and management of OCA.

Study Limitations

  • 1
    Small sample size of 12 patients.
  • 2
    Functional studies are necessary to verify the impact of two novel variants.
  • 3
    Limited information on the long-term clinical outcomes of patients with identified variants.

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