Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
Abstract Background 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. Objective To report a Chinese patient suspected of oculocutaneous albinism and...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2385 |
| _version_ | 1827340998943965184 |
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| author | Danyue He Xiaonan Liu Tianyu Yao Jie Hu Xiaodong Zheng Lili Tang Xing Fan |
| author_facet | Danyue He Xiaonan Liu Tianyu Yao Jie Hu Xiaodong Zheng Lili Tang Xing Fan |
| author_sort | Danyue He |
| collection | DOAJ |
| description | Abstract Background 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. Objective To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation. Methods 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. Results 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. Conclusion 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. |
| first_indexed | 2024-03-07T21:32:35Z |
| format | Article |
| id | doaj.art-4379bb2476694451b157db70f2772384 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T21:32:35Z |
| publishDate | 2024-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-4379bb2476694451b157db70f27723842024-02-26T14:52:29ZengWileyMolecular Genetics & Genomic Medicine2324-92692024-02-01122n/an/a10.1002/mgg3.2385Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese caseDanyue He0Xiaonan Liu1Tianyu Yao2Jie Hu3Xiaodong Zheng4Lili Tang5Xing Fan6Department of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaDepartment of Dermatology The First Affiliated Hospital of Anhui Medical University Hefei Anhui P.R. ChinaAbstract Background 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. Objective To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation. Methods 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. Results 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. Conclusion 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.https://doi.org/10.1002/mgg3.2385Chineseoculocutaneous albinismsanger sequencingSLC45A2whole exome sequencing |
| spellingShingle | Danyue He Xiaonan Liu Tianyu Yao Jie Hu Xiaodong Zheng Lili Tang Xing Fan Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case Molecular Genetics & Genomic Medicine Chinese oculocutaneous albinism sanger sequencing SLC45A2 whole exome sequencing |
| title | Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case |
| title_full | Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case |
| title_fullStr | Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case |
| title_full_unstemmed | Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case |
| title_short | Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case |
| title_sort | oculocutaneous albinism type 4 novel compound heterozygous mutations in the slc45a2 gene in a chinese case |
| topic | Chinese oculocutaneous albinism sanger sequencing SLC45A2 whole exome sequencing |
| url | https://doi.org/10.1002/mgg3.2385 |
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