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Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Int J Dev Neurosci. 2020 Mar 31 [Online ahead of print]IJ

Abstract

Joubert syndrome (JS) is a rare clinically and genetically heterogeneous disease. Using whole or targeted exome sequencing, we identified four novel compound heterozygous mutations in chromosome 5 open reading frame 42 gene (C5orf42), including c.2876C>T (missense mutation) and c.3921+1G>A (splicing mutation), c.2292 -2delA (splicing mutation) and c.4067C>T (missense mutation), c.6997_6998insT (frameshift mutation) and c.8710C>T (nonsense mutation), c.3981G>C (nonsense mutation) and c.230 _233del (frameshift mutation), in four Chinese JS families. They were all inherited from their heterozygosis parents in the autosomal recessive inheritance mode. Pure JS clinical manifestations and mild neuroimaging findings were found in these patients. These verified the previous findings that C5orf42 mutations generally resulted in a purely neurological Joubert phenotype, and neuroimaging findings were mild in JS with C5orf42 mutations. Our report analyzed these C5orf42 mutations-associated phenotypes and neuroimaging findings in JS and updated the genetic variation spectrum of JS caused by C5orf42.These will help clinicians and geneticists reach a more accurate diagnosis for JS.

Authors+Show Affiliations

Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Department of Traditional Chinese Medicine, School of Medicine, Ren Ji Hospital, Shanghai Jiaotong University, Shanghai, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.Kangso Medical Inspection Co., Ltd, Beijing, P.R. China.Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32233090

Citation

Liu, Qiuyan, et al. "Four Novel Compound Heterozygous Mutations in C5orf42 Gene in Patients With Pure and Mild Joubert Syndrome." International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2020.
Liu Q, Wang H, Zhao J, et al. Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. Int J Dev Neurosci. 2020.
Liu, Q., Wang, H., Zhao, J., Liu, Z., Sun, D., Yuan, A., Luo, G., Wei, W., & Hou, M. (2020). Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience. https://doi.org/10.1002/jdn.10029
Liu Q, et al. Four Novel Compound Heterozygous Mutations in C5orf42 Gene in Patients With Pure and Mild Joubert Syndrome. Int J Dev Neurosci. 2020 Mar 31; PubMed PMID: 32233090.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. AU - Liu,Qiuyan, AU - Wang,Haiqiao, AU - Zhao,Jianhui, AU - Liu,Zhicui, AU - Sun,Dianrong, AU - Yuan,Aiyun, AU - Luo,Guangjin, AU - Wei,Wei, AU - Hou,Mei, Y1 - 2020/03/31/ PY - 2020/02/03/received PY - 2020/03/09/revised PY - 2020/03/17/accepted PY - 2020/4/2/pubmed PY - 2020/4/2/medline PY - 2020/4/2/entrez KW - C5orf42 KW - Joubert syndrome KW - heterozygous mutation KW - molar tooth sign KW - oculomotor apraxia JF - International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience JO - Int. J. Dev. Neurosci. N2 - Joubert syndrome (JS) is a rare clinically and genetically heterogeneous disease. Using whole or targeted exome sequencing, we identified four novel compound heterozygous mutations in chromosome 5 open reading frame 42 gene (C5orf42), including c.2876C>T (missense mutation) and c.3921+1G>A (splicing mutation), c.2292 -2delA (splicing mutation) and c.4067C>T (missense mutation), c.6997_6998insT (frameshift mutation) and c.8710C>T (nonsense mutation), c.3981G>C (nonsense mutation) and c.230 _233del (frameshift mutation), in four Chinese JS families. They were all inherited from their heterozygosis parents in the autosomal recessive inheritance mode. Pure JS clinical manifestations and mild neuroimaging findings were found in these patients. These verified the previous findings that C5orf42 mutations generally resulted in a purely neurological Joubert phenotype, and neuroimaging findings were mild in JS with C5orf42 mutations. Our report analyzed these C5orf42 mutations-associated phenotypes and neuroimaging findings in JS and updated the genetic variation spectrum of JS caused by C5orf42.These will help clinicians and geneticists reach a more accurate diagnosis for JS. SN - 1873-474X UR - https://www.unboundmedicine.com/medline/citation/32233090/Four_novel_compound_heterozygous_mutations_in_C5orf42_gene_in_patients_with_pure_and_mild_Joubert_syndrome_ L2 - https://doi.org/10.1002/jdn.10029 DB - PRIME DP - Unbound Medicine ER -
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