Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 gene on chromosome 4q28. Almost all reported m...
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.807515/full |
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| author | Yimeng Qiao Yang Gu Ye Cheng Yu Su Nan Lv Qing Shang Qinghe Xing Qinghe Xing |
| author_facet | Yimeng Qiao Yang Gu Ye Cheng Yu Su Nan Lv Qing Shang Qinghe Xing Qinghe Xing |
| author_sort | Yimeng Qiao |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 gene on chromosome 4q28. Almost all reported mutations of MFSD8 in CLN7 patients were SNVs. However, we report a 4-year-old boy with CLN7 harboring compound heterozygous mutations in the MFSD8 gene, including one novel two-nucleotide deletion c.136_137delAT (p. M46Vfs*22) and one whole gene deletion of MFSD8 confirmed by Sanger sequencing, genomic quantitative PCR and CNV-seq. Therefore, for nonconsanguineous CLN7 patients with homozygous mutations in the MFSD8 gene, genetic counseling staff should focus on the possibility of whole gene deletion. This is one case report describing a whole gene deletion in a Chinese patient with CLN7, suggesting the diagnosis of CLN7 should be based on clinical suspicion and genetic testing. |
| first_indexed | 2024-12-13T13:46:44Z |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-13T13:46:44Z |
| publishDate | 2022-01-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-a2d3243ef4b54932aa4f1754d35431382022-12-21T23:43:23ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-01-011310.3389/fgene.2022.807515807515Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7Yimeng Qiao0Yang Gu1Ye Cheng2Yu Su3Nan Lv4Qing Shang5Qinghe Xing6Qinghe Xing7Institutes of Biomedical Sciences and Children’s Hospital, Fudan University, Shanghai, ChinaChildren’s Hospital of Zhengzhou University and Henan Children’s Hospital, Zhengzhou, ChinaInstitutes of Biomedical Sciences and Children’s Hospital, Fudan University, Shanghai, ChinaInstitutes of Biomedical Sciences and Children’s Hospital, Fudan University, Shanghai, ChinaChildren’s Hospital of Zhengzhou University and Henan Children’s Hospital, Zhengzhou, ChinaChildren’s Hospital of Zhengzhou University and Henan Children’s Hospital, Zhengzhou, ChinaInstitutes of Biomedical Sciences and Children’s Hospital, Fudan University, Shanghai, ChinaShanghai Center for Women and Children’s Health, Shanghai, ChinaNeuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 gene on chromosome 4q28. Almost all reported mutations of MFSD8 in CLN7 patients were SNVs. However, we report a 4-year-old boy with CLN7 harboring compound heterozygous mutations in the MFSD8 gene, including one novel two-nucleotide deletion c.136_137delAT (p. M46Vfs*22) and one whole gene deletion of MFSD8 confirmed by Sanger sequencing, genomic quantitative PCR and CNV-seq. Therefore, for nonconsanguineous CLN7 patients with homozygous mutations in the MFSD8 gene, genetic counseling staff should focus on the possibility of whole gene deletion. This is one case report describing a whole gene deletion in a Chinese patient with CLN7, suggesting the diagnosis of CLN7 should be based on clinical suspicion and genetic testing.https://www.frontiersin.org/articles/10.3389/fgene.2022.807515/fullneuronal ceroid lipofuscinosesCLN7MFSD8whole gene deletionmutation |
| spellingShingle | Yimeng Qiao Yang Gu Ye Cheng Yu Su Nan Lv Qing Shang Qinghe Xing Qinghe Xing Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 Frontiers in Genetics neuronal ceroid lipofuscinoses CLN7 MFSD8 whole gene deletion mutation |
| title | Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 |
| title_full | Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 |
| title_fullStr | Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 |
| title_full_unstemmed | Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 |
| title_short | Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 |
| title_sort | case report novel mfsd8 variants in a chinese family with neuronal ceroid lipofuscinoses 7 |
| topic | neuronal ceroid lipofuscinoses CLN7 MFSD8 whole gene deletion mutation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.807515/full |
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