Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis
Abstract Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. Methods In this study, six families with CIPA were recrui...
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2021
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oai:doaj.org-article:eb40b0c9466548898d9f64b02237c4302021-11-21T19:38:53ZIdentification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis2324-926910.1002/mgg3.1839https://doaj.org/article/eb40b0c9466548898d9f64b02237c4302021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1839https://doaj.org/toc/2324-9269Abstract Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. Methods In this study, six families with CIPA were recruited and submitted to a series of clinical and genetic examinations. Whole‐exome sequencing and whole‐genome sequencing were applied to perform a comprehensive genetic analysis. Sanger sequencing was used as a validation method. Results These patients exhibited phenotypic variability. All probands in the six families were positive for biallelic pathogenic variants in NTRK1. Five individual variants, namely NTRK1: (NM_002529.3) c.851‐33T>A, c.717+2T>C, c.1806‐2A>G, c.1251+1G>A, and c.851‐794C>G, including three novel ones, were identified, which were carried by the six patients in a homozygous or compound heterozygous way. The validation results indicated that all the parents of the six probands, except for one father and one mother, were monoallelic carriers of a single variant. Conclusions The findings in our study extended the variation spectrum of the NTRK1 gene and highlighted the advantage of the integrated application of multiplatform genetic technologies.Shang LiHua‐ying HuJun‐Jun XuZhan‐ke FengYong‐qing SunXu ChenKai YangYa‐zhou LiDong‐liang ZhangWileyarticlecongenital insensitivity to pain with anhidrosisNTRK1 genewhole‐exome sequencingwhole‐genome sequencingGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
congenital insensitivity to pain with anhidrosis NTRK1 gene whole‐exome sequencing whole‐genome sequencing Genetics QH426-470 |
| spellingShingle |
congenital insensitivity to pain with anhidrosis NTRK1 gene whole‐exome sequencing whole‐genome sequencing Genetics QH426-470 Shang Li Hua‐ying Hu Jun‐Jun Xu Zhan‐ke Feng Yong‐qing Sun Xu Chen Kai Yang Ya‐zhou Li Dong‐liang Zhang Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| description |
Abstract Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. Methods In this study, six families with CIPA were recruited and submitted to a series of clinical and genetic examinations. Whole‐exome sequencing and whole‐genome sequencing were applied to perform a comprehensive genetic analysis. Sanger sequencing was used as a validation method. Results These patients exhibited phenotypic variability. All probands in the six families were positive for biallelic pathogenic variants in NTRK1. Five individual variants, namely NTRK1: (NM_002529.3) c.851‐33T>A, c.717+2T>C, c.1806‐2A>G, c.1251+1G>A, and c.851‐794C>G, including three novel ones, were identified, which were carried by the six patients in a homozygous or compound heterozygous way. The validation results indicated that all the parents of the six probands, except for one father and one mother, were monoallelic carriers of a single variant. Conclusions The findings in our study extended the variation spectrum of the NTRK1 gene and highlighted the advantage of the integrated application of multiplatform genetic technologies. |
| format |
article |
| author |
Shang Li Hua‐ying Hu Jun‐Jun Xu Zhan‐ke Feng Yong‐qing Sun Xu Chen Kai Yang Ya‐zhou Li Dong‐liang Zhang |
| author_facet |
Shang Li Hua‐ying Hu Jun‐Jun Xu Zhan‐ke Feng Yong‐qing Sun Xu Chen Kai Yang Ya‐zhou Li Dong‐liang Zhang |
| author_sort |
Shang Li |
| title |
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| title_short |
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| title_full |
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| title_fullStr |
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| title_full_unstemmed |
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis |
| title_sort |
identification of novel variations in the ntrk1 gene causing congenital insensitivity to pain with anhidrosis |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/eb40b0c9466548898d9f64b02237c430 |
| work_keys_str_mv |
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| _version_ |
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