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

被引:2
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.
引用
收藏
页数:6
相关论文
共 50 条
  • [41] Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2
    Wang, Jing
    Wang, Chunyan
    Xie, Haiyang
    Feng, Xiaoyuan
    Wei, Lei
    Wang, Binbin
    Li, Tengyan
    Pi, Mingan
    Gong, Li
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 9
  • [42] Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
    Wang, Xueqian
    He, Yaqiong
    Wang, Xiaorong
    Kong, Xiangtian
    Lin, Yunying
    Yao, Yejie
    Huang, Yi
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (01):
  • [43] Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report
    Chen, Wenqing
    Zhou, Qin
    Chen, Hongjun
    Li, Heng
    Chen, Jianghua
    FRONTIERS IN GENETICS, 2023, 14
  • [44] Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family
    Zhou, Xiaoqiang
    Zhou, Yasi
    Wu, Shuijuan
    Guo, Xiaoling
    Yao, Liangfeng
    Yang, Xingkun
    FRONTIERS IN GENETICS, 2024, 15
  • [45] Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child
    Li, Jia-Qi
    Feng, Jia-Yan
    Gong, Ying
    Li, Wang-Qiang
    Liu, Teng
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [46] A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review
    Li, Jie
    Wang, Xiaozi
    Zheng, Na
    Wang, Xiaoning
    Liu, Yan
    Xue, Liying
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [47] Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report
    Xinying Zhang
    Ya Guo
    Wenxiu Sun
    Molecular Biology Reports, 2022, 49 : 9107 - 9112
  • [48] Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report
    Zhang, Xinying
    Guo, Ya
    Sun, Wenxiu
    MOLECULAR BIOLOGY REPORTS, 2022, 49 (09) : 9107 - 9112
  • [49] Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young
    Tang, Chaoyan
    Meng, Liheng
    Zhang, Ping
    Liang, Xinghuan
    Dang, Chaozhi
    Liang, Hui
    Wu, Junfeng
    Lan, Haiyun
    Qin, Yingfen
    FRONTIERS IN ENDOCRINOLOGY, 2021, 12
  • [50] Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report
    Keravnou, Anna
    Bashiardes, Evy
    Michailidou, Kyriaki
    Soteriou, Marinos
    Moushi, Areti
    Cariolou, Marios
    BMC MEDICAL GENETICS, 2018, 19