Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review
BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of w...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-12-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.1069453/full |
| _version_ | 1828089451636588544 |
|---|---|
| author | Weijie Chen Yuanyuan Wang Shengwen Huang Xiaoli Yang Liwei Shen Danhong Wu |
| author_facet | Weijie Chen Yuanyuan Wang Shengwen Huang Xiaoli Yang Liwei Shen Danhong Wu |
| author_sort | Weijie Chen |
| collection | DOAJ |
| description | BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of which are missense ones, and the occurrence of cerebral small vessel diseases (CSVD) has been reported. Recently, heterozygous HTRA1 nonsense mutations have been recognized to be pathogenic.Case presentationWe described two Chinese patients diagnosed with HTRA1-CSVD accompanied by heterozygous nonsense mutations. Their first clinical manifestations were symptoms due to ischemic stroke, and brain Magnetic Resonance Imaging (MRI) showed diffuse white matter lesions (WMLs) and microbleeds in both of them. Genetic sequencing revealed two novel heterozygous nonsense mutations: c.1096G>T (p.E366X) and c.151G>T (p.E51X).ConclusionThis case report expands the clinical, radiographic, and genetic spectrum of HTRA1-CSVD. Attention should be paid to young patients with ischemic stroke as the first clinical manifestation. Genetic screening for such sporadic CSVD is recommended, even if the symptoms are atypical. |
| first_indexed | 2024-04-11T05:39:57Z |
| format | Article |
| id | doaj.art-4099dc3acc0f48f08412d578aa5767ea |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-11T05:39:57Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-4099dc3acc0f48f08412d578aa5767ea2022-12-22T05:22:13ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-12-011310.3389/fneur.2022.10694531069453Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature reviewWeijie ChenYuanyuan WangShengwen HuangXiaoli YangLiwei ShenDanhong WuBackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of which are missense ones, and the occurrence of cerebral small vessel diseases (CSVD) has been reported. Recently, heterozygous HTRA1 nonsense mutations have been recognized to be pathogenic.Case presentationWe described two Chinese patients diagnosed with HTRA1-CSVD accompanied by heterozygous nonsense mutations. Their first clinical manifestations were symptoms due to ischemic stroke, and brain Magnetic Resonance Imaging (MRI) showed diffuse white matter lesions (WMLs) and microbleeds in both of them. Genetic sequencing revealed two novel heterozygous nonsense mutations: c.1096G>T (p.E366X) and c.151G>T (p.E51X).ConclusionThis case report expands the clinical, radiographic, and genetic spectrum of HTRA1-CSVD. Attention should be paid to young patients with ischemic stroke as the first clinical manifestation. Genetic screening for such sporadic CSVD is recommended, even if the symptoms are atypical.https://www.frontiersin.org/articles/10.3389/fneur.2022.1069453/fullHTRA1cerebral small vessel diseasenonsenseischemic strokeheterozygous mutations |
| spellingShingle | Weijie Chen Yuanyuan Wang Shengwen Huang Xiaoli Yang Liwei Shen Danhong Wu Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review Frontiers in Neurology HTRA1 cerebral small vessel disease nonsense ischemic stroke heterozygous mutations |
| title | Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review |
| title_full | Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review |
| title_fullStr | Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review |
| title_full_unstemmed | Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review |
| title_short | Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review |
| title_sort | case report two unique nonsense mutations in htra1 related cerebral small vessel disease in a chinese population and literature review |
| topic | HTRA1 cerebral small vessel disease nonsense ischemic stroke heterozygous mutations |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.1069453/full |
| work_keys_str_mv | AT weijiechen casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview AT yuanyuanwang casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview AT shengwenhuang casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview AT xiaoliyang casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview AT liweishen casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview AT danhongwu casereporttwouniquenonsensemutationsinhtra1relatedcerebralsmallvesseldiseaseinachinesepopulationandliteraturereview |