Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
العنوان: | Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome |
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المؤلفون: | Jianhui Zhao, Zhicui Liu, Dianrong Sun, Guangjin Luo, Mei Hou, Haiqiao Wang, Wei Wei, Aiyun Yuan, Qiuyan Liu |
المصدر: | International Journal of Developmental Neuroscience. 80:455-463 |
بيانات النشر: | Wiley, 2020. |
سنة النشر: | 2020 |
مصطلحات موضوعية: | Male, DNA Mutational Analysis, Nonsense mutation, Biology, Compound heterozygosity, Retina, Joubert syndrome, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Cerebellum, medicine, Humans, Missense mutation, Abnormalities, Multiple, Eye Abnormalities, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Genetic heterogeneity, Infant, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, Mutation, Mutation (genetic algorithm), Female, 030217 neurology & neurosurgery, Developmental Biology |
الوصف: | 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. |
تدمد: | 1873-474X 0736-5748 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ee6c1c9e27f7d0aa81f6e5d9eb7408 https://doi.org/10.1002/jdn.10029 |
حقوق: | CLOSED |
رقم الأكسشن: | edsair.doi.dedup.....37ee6c1c9e27f7d0aa81f6e5d9eb7408 |
قاعدة البيانات: | OpenAIRE |
تدمد: | 1873474X 07365748 |
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