Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.
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DOI：
10.3389/fgene.2022.807515
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发表时间：
2022
影响因子：
3.7
通讯作者：
Xing Q
中科院分区：
文献类型：
--
作者：
Qiao Y;Gu Y;Cheng Y;Su Y;Lv N;Shang Q;Xing Q
神经元蜡样质脂褐质沉积症（NCL）是儿童期最常见的进行性脑病。神经元蜡样质脂褐质沉积症7（Neuronal ceroid lipofuscinosis 7，CLN 7）是一种晚发型NCL，是由染色体4 q28上的MFSD 8基因突变引起的常染色体隐性遗传疾病。在CLN 7患者中几乎所有报道的MFSD 8突变都是SNV。然而，我们报告了一个4岁的男孩CLN 7携带复合杂合突变的MFSD 8基因，包括一个新的两个核苷酸缺失c.136_137 delAT（p. M46 Vfs *22）和一个全基因缺失的MFSD 8证实桑格测序，基因组定量PCR和CNV-seq。因此，对于MFSD 8基因纯合突变的非血缘CLN 7患者，遗传咨询人员应重点关注全基因缺失的可能性。这是一份描述中国CLN 7患者全基因缺失的病例报告，提示CLN 7的诊断应基于临床怀疑和基因检测。
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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影响因子：
6.1
作者：
McBride JL;Neuringer M;Ferguson B;Kohama SG;Tagge IJ;Zweig RC;Renner LM;McGill TJ;Stoddard J;Peterson S;Su W;Sherman LS;Domire JS;Ducore RM;Colgin LM;Lewis AD
通讯作者：
Lewis AD
影响因子：
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影响因子：
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影响因子：
2.1
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影响因子：
3.5
作者：
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通讯作者：
Boycott KM