Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, P.R. China.
Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, Anhui, P.R. China.
Mol Genet Genomic Med. 2024 Feb;12(2):e2385. doi: 10.1002/mgg3.2385.
Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants.
To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation.
Genomic DNA was extracted from the peripheral blood samples of the patient, his parents, and elder brother. Whole exome sequencing was performed in the family, and Sanger sequencing was then used to verify the mutations.
Compound heterozygous variants, c.1304C>A (p.S435Y) and c.301C>G (p.R101G) in SLC45A2 gene, were detected in the proband, which were inherited from his father and mother respectively. Based on the ACMG guidelines, we can interpret the c.1304C>A (p.S435Y) variant as a suspected pathogenic variant and the c.301C>G (p.R101G) variant as a clinically significant unspecified variant. The diagnosis of OCA4 is confirmed.
We firstly reported this case of OCA4 with the compound heterozygous variants in the SLC45A2 gene. Our findings further enrich the reservoir of SLC45A2 mutations in OCA4.
眼皮肤白化病 4 型（OCA4）是一种罕见的常染色体隐性遗传疾病，其特征为皮肤、毛发和眼睛的色素沉着减少，主要与 SLC45A2 基因突变相关。
报告一名疑似眼皮肤白化病的中国患者，并鉴定致病突变。
采集患者及其父母和哥哥外周血样提取基因组 DNA，对家系进行全外显子测序，对可疑突变进行 Sanger 测序验证。
在先证者中检测到 SLC45A2 基因的复合杂合变异 c.1304C>A（p.S435Y）和 c.301C>G（p.R101G），分别遗传自其父亲和母亲。根据 ACMG 指南，我们可以将 c.1304C>A（p.S435Y）变异解释为疑似致病性变异，c.301C>G（p.R101G）变异解释为具有临床意义的未明意义变异。确诊为 OCA4。
我们首次报道了一例 SLC45A2 基因复合杂合变异导致的 OCA4，进一步丰富了 OCA4 中 SLC45A2 基因突变谱。
