Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.
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...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-01-01
|
| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4152247?pdf=render |
| _version_ | 1818129104526901248 |
|---|---|
| author | 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-da Li Kun Xia Xin-xiang Yan Bei-sha Tang |
| author_facet | 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-da Li Kun Xia Xin-xiang Yan Bei-sha Tang |
| author_sort | Zhan-fang Sun |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T07:43:50Z |
| format | Article |
| id | doaj.art-5a3845f214574d7989c12c8fb6c74c8f |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-11T07:43:50Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-5a3845f214574d7989c12c8fb6c74c8f2022-12-22T01:15:30ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0199e10638810.1371/journal.pone.0106388Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.Zhan-fang SunYu-han ZhangJi-feng GuoQi-ying SunJun-pu MeiHan-lin ZhouLi-ping GuanJin-yong TianZheng-mao HuJia-da LiKun XiaXin-xiang YanBei-sha TangDopa-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.http://europepmc.org/articles/PMC4152247?pdf=render |
| spellingShingle | 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-da Li Kun Xia Xin-xiang Yan Bei-sha Tang Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. PLoS ONE |
| title | Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. |
| title_full | Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. |
| title_fullStr | Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. |
| title_full_unstemmed | Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. |
| title_short | Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. |
| title_sort | genetic diagnosis of two dopa responsive dystonia families by exome sequencing |
| url | http://europepmc.org/articles/PMC4152247?pdf=render |
| work_keys_str_mv | AT zhanfangsun geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT yuhanzhang geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT jifengguo geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT qiyingsun geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT junpumei geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT hanlinzhou geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT lipingguan geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT jinyongtian geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT zhengmaohu geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT jiadali geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT kunxia geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT xinxiangyan geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing AT beishatang geneticdiagnosisoftwodoparesponsivedystoniafamiliesbyexomesequencing |