Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hereditary Sensory and Autonomic Neuropathies
/
Pain Insensitivity, Congenital
/
Receptor, trkA
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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