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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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Autores principales: Qiao, Yimeng, Gu, Yang, Cheng, Ye, Su, Yu, Lv, Nan, Shang, Qing, Xing, Qinghe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826235/
https://www.ncbi.nlm.nih.gov/pubmed/35154277
http://dx.doi.org/10.3389/fgene.2022.807515
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author Qiao, Yimeng
Gu, Yang
Cheng, Ye
Su, Yu
Lv, Nan
Shang, Qing
Xing, Qinghe
author_facet Qiao, Yimeng
Gu, Yang
Cheng, Ye
Su, Yu
Lv, Nan
Shang, Qing
Xing, Qinghe
author_sort Qiao, Yimeng
collection PubMed
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.
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spelling pubmed-88262352022-02-10 Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 Qiao, Yimeng Gu, Yang Cheng, Ye Su, Yu Lv, Nan Shang, Qing Xing, Qinghe Front Genet Genetics 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. Frontiers Media S.A. 2022-01-26 /pmc/articles/PMC8826235/ /pubmed/35154277 http://dx.doi.org/10.3389/fgene.2022.807515 Text en Copyright © 2022 Qiao, Gu, Cheng, Su, Lv, Shang and Xing. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Qiao, Yimeng
Gu, Yang
Cheng, Ye
Su, Yu
Lv, Nan
Shang, Qing
Xing, Qinghe
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
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 Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826235/
https://www.ncbi.nlm.nih.gov/pubmed/35154277
http://dx.doi.org/10.3389/fgene.2022.807515
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