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

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

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 suspe...

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Bibliographic Details
Main Authors: Lei Luo, Min Ma, Yanzhang Yang, Hui Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Pediatrics
Subjects:
oculocutaneous albinism type 2
OCA2
new mutation site
WES (whole exome sequencing)
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1508198/full
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