Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts
BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene c...
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1332992/full |
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| author | Zhao-Jing Lin Jie-Yi Long Juan Li Fang-Na Wang Wei Chu Lei Zhu Ya-Li Li Liang-Liang Fan |
| author_facet | Zhao-Jing Lin Jie-Yi Long Juan Li Fang-Na Wang Wei Chu Lei Zhu Ya-Li Li Liang-Liang Fan |
| author_sort | Zhao-Jing Lin |
| collection | DOAJ |
| description | BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years.MethodsIn this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family.ResultsThrough whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets.ConclusionHence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataracts. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients. |
| first_indexed | 2024-03-07T19:43:52Z |
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| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-07T19:43:52Z |
| publishDate | 2024-02-01 |
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| series | Frontiers in Medicine |
| spelling | doaj.art-d6605ad43acb49169b49942d0e7a65082024-02-29T05:03:28ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-02-011110.3389/fmed.2024.13329921332992Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataractsZhao-Jing Lin0Jie-Yi Long1Juan Li2Fang-Na Wang3Wei Chu4Lei Zhu5Ya-Li Li6Liang-Liang Fan7Department of Anesthesiology, The Second Xiangya Hospital of Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, ChinaDepartment of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Obstetrics and Gynecology, Ordos Central Hospital, Ordos, ChinaDepartment of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, ChinaBackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years.MethodsIn this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family.ResultsThrough whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets.ConclusionHence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataracts. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients.https://www.frontiersin.org/articles/10.3389/fmed.2024.1332992/fullcongenital cataractinherited cataractMAFwhole exome sequencingmissense mutation |
| spellingShingle | Zhao-Jing Lin Jie-Yi Long Juan Li Fang-Na Wang Wei Chu Lei Zhu Ya-Li Li Liang-Liang Fan Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts Frontiers in Medicine congenital cataract inherited cataract MAF whole exome sequencing missense mutation |
| title | Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts |
| title_full | Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts |
| title_fullStr | Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts |
| title_full_unstemmed | Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts |
| title_short | Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts |
| title_sort | case report whole exome sequencing identified a novel mutation p y301h of maf in a chinese family with congenital cataracts |
| topic | congenital cataract inherited cataract MAF whole exome sequencing missense mutation |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2024.1332992/full |
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