Heterozygous HTRA1 missense mutation in CADASIL-like family disease
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Associação Brasileira de Divulgação Científica
2018-03-01
|
| Series: | Brazilian Journal of Medical and Biological Research |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602&lng=en&tlng=en |
| _version_ | 1818523368046985216 |
|---|---|
| author | Xiaowei Wu Changxin Li Jinming Mao Ling Li Yan Liu Yao Hou |
| author_facet | Xiaowei Wu Changxin Li Jinming Mao Ling Li Yan Liu Yao Hou |
| author_sort | Xiaowei Wu |
| collection | DOAJ |
| description | The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high temperature requirement protease A1 (HTRA1) gene in the pro-band, which may be a pathogenic factor according to the biological software analysis. The following SNP results revealed that the other family members also had the HTRA1 gene mutation. Thus, the CADASIL-like family disease may be caused by heterozygous HTRA1 gene mutation, which leads to autosomal dominant hereditary cerebral small vessel disease. |
| first_indexed | 2024-12-11T05:44:06Z |
| format | Article |
| id | doaj.art-4a987c7ec3e047f3a92176275b04fd43 |
| institution | Directory Open Access Journal |
| issn | 1414-431X |
| language | English |
| last_indexed | 2024-12-11T05:44:06Z |
| publishDate | 2018-03-01 |
| publisher | Associação Brasileira de Divulgação Científica |
| record_format | Article |
| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-4a987c7ec3e047f3a92176275b04fd432022-12-22T01:19:01ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research1414-431X2018-03-0151510.1590/1414-431x20176632S0100-879X2018000500602Heterozygous HTRA1 missense mutation in CADASIL-like family diseaseXiaowei WuChangxin LiJinming MaoLing LiYan LiuYao HouThe aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high temperature requirement protease A1 (HTRA1) gene in the pro-band, which may be a pathogenic factor according to the biological software analysis. The following SNP results revealed that the other family members also had the HTRA1 gene mutation. Thus, the CADASIL-like family disease may be caused by heterozygous HTRA1 gene mutation, which leads to autosomal dominant hereditary cerebral small vessel disease.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602&lng=en&tlng=enHTRA1CADASIL-likeSNPCerebral small vessel disease |
| spellingShingle | Xiaowei Wu Changxin Li Jinming Mao Ling Li Yan Liu Yao Hou Heterozygous HTRA1 missense mutation in CADASIL-like family disease Brazilian Journal of Medical and Biological Research HTRA1 CADASIL-like SNP Cerebral small vessel disease |
| title | Heterozygous HTRA1 missense mutation in CADASIL-like family disease |
| title_full | Heterozygous HTRA1 missense mutation in CADASIL-like family disease |
| title_fullStr | Heterozygous HTRA1 missense mutation in CADASIL-like family disease |
| title_full_unstemmed | Heterozygous HTRA1 missense mutation in CADASIL-like family disease |
| title_short | Heterozygous HTRA1 missense mutation in CADASIL-like family disease |
| title_sort | heterozygous htra1 missense mutation in cadasil like family disease |
| topic | HTRA1 CADASIL-like SNP Cerebral small vessel disease |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602&lng=en&tlng=en |
| work_keys_str_mv | AT xiaoweiwu heterozygoushtra1missensemutationincadasillikefamilydisease AT changxinli heterozygoushtra1missensemutationincadasillikefamilydisease AT jinmingmao heterozygoushtra1missensemutationincadasillikefamilydisease AT lingli heterozygoushtra1missensemutationincadasillikefamilydisease AT yanliu heterozygoushtra1missensemutationincadasillikefamilydisease AT yaohou heterozygoushtra1missensemutationincadasillikefamilydisease |