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Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Li, Shang; Hu, Hua-Ying; Xu, Jun-Jun; Feng, Zhan-Ke; Sun, Yong-Qing; Chen, Xu; Yang, Kai; Li, Ya-Zhou; Zhang, Dong-Liang.
Affiliation
  • Li S; Department of Anesthesiology, Peking University People's Hospital, Beijing, China.
  • Hu HY; Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing, China.
  • Xu JJ; Department of Anesthesiology, Peking University People's Hospital, Beijing, China.
  • Feng ZK; Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing, China.
  • Sun YQ; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Chen X; Department of Orthodontics, Beijing Stomatological Hospital, School of Stomatology, Capital Medical University, Beijing, China.
  • Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Li YZ; Department of Pediatric Orthopedics, The Third Hospital of Hebei Medical University, Shijiazhuang, China.
  • Zhang DL; Department of Orthodontics, Beijing Stomatological Hospital, School of Stomatology, Capital Medical University, Beijing, China.
Mol Genet Genomic Med ; 9(11): e1839, 2021 11.
Article in En | MEDLINE | ID: mdl-34674383
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Pain Insensitivity, Congenital / Receptor, trkA / Hypohidrosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: China Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Pain Insensitivity, Congenital / Receptor, trkA / Hypohidrosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: China Country of publication: United States