Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome SequencingReportar como inadecuado

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Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical dopa-responsive dystonia pedigrees. One pedigree, presented with prominent parkinsonism, was misdiagnosed as Parkinson-s disease until a known mutation in GCH1 GTP cyclohydrolase 1 gene NM 000161.2: c.631 632delAT, p.Met211ValfsX38 was found. The other pedigree was detected with a new compound heterozygous mutation in TH tyrosine hydroxylase gene NM 000360.3: c.911C>T, p.Ala304Val and NM 000360.3: c.1358G>A, p.Arg453His, whose proband, a pregnant woman, required a rapid and less-biased genetic diagnosis. In conclusion, we demonstrated that exome sequencing could provide a precise and rapid genetic testing in the diagnosis of Mendelian diseases, especially for diseases with wide phenotypes.

Autor: Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-d



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