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Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2017-5-16 , DOI: 10.1097/mcd.0000000000000183 Kaihui Zhang 1 , Chen Meng , Jing Ma , Min Gao , Yuqiang Lv , Yi Liu , Zhongtao Gai
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2017-5-16 , DOI: 10.1097/mcd.0000000000000183 Kaihui Zhang 1 , Chen Meng , Jing Ma , Min Gao , Yuqiang Lv , Yi Liu , Zhongtao Gai
Affiliation
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing. The de-novo OFD1 mutation in exon 21 leads to a frameshift mutation generating a prematurely truncated protein and is predicted to partly reduce the function of the OFD1 protein. Our study expands the genotype-phenotype spectrum in JBTS and will have applications in prenatal and early diagnosis of the disorder. This is the first report of the OFD1 mutation causing JBTS in a Chinese population.
更新日期：2020-12-17
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