Luo Lei, Ma Min, Yang Yanzhang, Zhao Hui
Department of Pediatrics and Neonatal, Hebei General Hospital, Shijiazhuang, China.
Department of Internal Medicine, The Fourth Hospital of Shijiazhuang (Maternal Hospital Affiliated to Hebei Medical University), Shijiazhuang, China.
Front Pediatr. 2025 Apr 17;13:1508198. doi: 10.3389/fped.2025.1508198. eCollection 2025.
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 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 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 (NM_000275.2:c.863_886del), contributing to the genetic diversity of the .
眼皮肤白化病（OCA）是以常染色体隐性方式遗传的一种疾病，会导致皮肤、头发和眼睛色素沉着减少。2型眼皮肤白化病（OCA2）是OCA最常见的形式之一，由基因突变引起。本病例报告介绍了一名疑似患有OCA的新生儿。产后检查发现其皮肤白皙、头发呈金黄色，眼底摄影显示视网膜色素上皮的可见度降低。从患者及其父母的外周血中提取基因组DNA。使用基于芯片捕获的高通量测序技术进行全外显子组测序（WES），以分析先证者及其父母的基因组DNA。通过桑格测序鉴定其父母的基因变异。在[具体基因名称未给出]中鉴定出一个突变：NM_000275.2:c.863_886delTGAGCAGGACCTTTGAGGTGA（p.Met288_Leu295del）。随后进行了基因分析。该突变被认为是一个潜在的致病突变，证实了OCA2的诊断。目前，关于这个突变位点的报道很少。它代表了[具体基因名称未给出]（NM_000275.2:c.863_886del）中的一个新突变位点，丰富了[具体基因名称未给出]的遗传多样性。
