Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of mel...
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Frontiers Media S.A.
2021-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.715437/full |
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| author | Linya Ma Jianjian Zhu Jing Wang Yazhou Huang Jibo Zhang Chao Wang Yuan Zhou Dan Peng Dan Peng |
| author_facet | Linya Ma Jianjian Zhu Jing Wang Yazhou Huang Jibo Zhang Chao Wang Yuan Zhou Dan Peng Dan Peng |
| author_sort | Linya Ma |
| collection | DOAJ |
| description | BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of melanosomes. Up to now, hundreds of OCA2 mutations have been reported and novel variants are still being discovered.MethodsIn this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.ResultsIn this study, we reported 31 variants screened from 28 Chinese OCA2 families, and characterized the detailed molecular and clinical presentations. There were 12 novel variants among all detected variants, including 3 missense variants (p.G393V, p.T482A, and p.R720P), 4 frameshift variants (p.R53Gfs∗49, p.N279Kfs∗17, p.I469Lfs∗4, p.I655Nfs∗12), 2 splicing variants (c.1637-2A > G, c.1951 + 1G > C), 2 stopgain variants (p.L278X, p.W652X) and 1 insertion variants (p.P315LinsT). One potential cluster of missense variants was implicated indicating the important roles of the underlying domains in OCA2 pathogenesis.ConclusionOur results were beneficial for diagnosis and precision clinical management for OCA2-related disorder, and this study expanded the mutation spectrum of oculocutaneous albinism. |
| first_indexed | 2024-12-22T08:34:46Z |
| format | Article |
| id | doaj.art-cf77786904d04cf7b338b14372a5f9e9 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-22T08:34:46Z |
| publishDate | 2021-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-cf77786904d04cf7b338b14372a5f9e92022-12-21T18:32:24ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-10-011210.3389/fgene.2021.715437715437Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous AlbinismLinya Ma0Jianjian Zhu1Jing Wang2Yazhou Huang3Jibo Zhang4Chao Wang5Yuan Zhou6Dan Peng7Dan Peng8Department of Medical Genetics, Changde First People’s Hospital, Changde, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaChangsha Kingmed Center for Clinical Laboratory, Changsha, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaDepartment of Medical Genetics, Changde First People’s Hospital, Changde, ChinaAffiliated Hospital of Changde City, University of South China, Hengyang, ChinaBackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of melanosomes. Up to now, hundreds of OCA2 mutations have been reported and novel variants are still being discovered.MethodsIn this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.ResultsIn this study, we reported 31 variants screened from 28 Chinese OCA2 families, and characterized the detailed molecular and clinical presentations. There were 12 novel variants among all detected variants, including 3 missense variants (p.G393V, p.T482A, and p.R720P), 4 frameshift variants (p.R53Gfs∗49, p.N279Kfs∗17, p.I469Lfs∗4, p.I655Nfs∗12), 2 splicing variants (c.1637-2A > G, c.1951 + 1G > C), 2 stopgain variants (p.L278X, p.W652X) and 1 insertion variants (p.P315LinsT). One potential cluster of missense variants was implicated indicating the important roles of the underlying domains in OCA2 pathogenesis.ConclusionOur results were beneficial for diagnosis and precision clinical management for OCA2-related disorder, and this study expanded the mutation spectrum of oculocutaneous albinism.https://www.frontiersin.org/articles/10.3389/fgene.2021.715437/fullOCA2 genemissense variantsoculocutaneous albinismnext-generation sequencingnovel variants |
| spellingShingle | Linya Ma Jianjian Zhu Jing Wang Yazhou Huang Jibo Zhang Chao Wang Yuan Zhou Dan Peng Dan Peng Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism Frontiers in Genetics OCA2 gene missense variants oculocutaneous albinism next-generation sequencing novel variants |
| title | Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism |
| title_full | Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism |
| title_fullStr | Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism |
| title_full_unstemmed | Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism |
| title_short | Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism |
| title_sort | genetic analysis of 28 chinese families with tyrosinase positive oculocutaneous albinism |
| topic | OCA2 gene missense variants oculocutaneous albinism next-generation sequencing novel variants |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.715437/full |
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