Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7

被引:4
作者
Qiao, Yimeng [1 ,2 ]
Gu, Yang [3 ,4 ]
Cheng, Ye [1 ,2 ]
Su, Yu [1 ,2 ]
Lv, Nan [3 ,4 ]
Shang, Qing [3 ,4 ]
Xing, Qinghe [1 ,2 ,5 ]
机构
[1] Fudan Univ, Inst Biomed Sci, Shanghai, Peoples R China
[2] Fudan Univ, Childrens Hosp, Shanghai, Peoples R China
[3] Zhengzhou Univ, Childrens Hosp, Zhengzhou, Peoples R China
[4] Henan Childrens Hosp, Zhengzhou, Peoples R China
[5] Shanghai Ctr Women & Childrens Hlth, Shanghai, Peoples R China
基金
中国国家自然科学基金;
关键词
neuronal ceroid lipofuscinoses; CLN7; MFSD8; whole gene deletion; mutation; DEVELOPMENTAL DELAY; MUTATIONS; CLN7;
D O I
10.3389/fgene.2022.807515
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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页数:6
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