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CASE REPORT article

Front. Pediatr.

Sec. Neonatology

Volume 13 - 2025 | doi: 10.3389/fped.2025.1508198

Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2

Provisionally accepted
Lei Luo Lei Luo 1Min Ma Min Ma 2,3Yanzhang Yang Yanzhang Yang 1Hui Zhao Hui Zhao 4*
  • 1 Department of Pediatrics and Neonatal, Hebei General Hospital, Shijiazhuang, China
  • 2 Department of Internal Medicine, Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei Province, China
  • 3 Maternal Hospital Affiliated to Hebei Medical University, Shijiazhuang, Hebei Province, China
  • 4 Department of Pediatrics, Second Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China

The final, formatted version of the article will be published soon.

    Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by OCA2 mutations. This case report presents a newborn with suspected OCA. Postnatal examination revealed white skin, golden-colored hair, and reduced visibility of the retinal pigmented epithelium on fundus photography. Genomic DNA was extracted from the peripheral blood of the patient and her parents. Whole Exome Sequencing (WES) was conducted using chip capture-based high-throughput sequencing technology to analyze genomic DNA from the proband and her parents. Genetic variants of his parents were identified using sanger sequencing. A mutation in the OCA2 was identified: NM_000275.2: c.863_886delTGAGCAGGACCTTTGAGGTGA (p.Met288_Leu295del). Subsequently genetic analyses were conducted. This mutation was recognized as a potential disease-causing mutation, validating diagnosis of OCA2. Currently, few reports have been published regarding this mutation site. It represents a new mutation site in OCA2 (NM_000275.2:c.863_886del), contributing to the genetic diversity of the OCA2.

    Keywords: Oculocutaneous Albinism Type 2, OCA2, New mutation site, WES (whole exome sequencing), case report

    Received: 09 Oct 2024; Accepted: 26 Mar 2025.

    Copyright: © 2025 Luo, Ma, Yang and Zhao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Hui Zhao, Department of Pediatrics, Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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