Copyright
©The Author(s) 2018.
World J Clin Cases. Nov 26, 2018; 6(14): 836-841
Published online Nov 26, 2018. doi: 10.12998/wjcc.v6.i14.836
Published online Nov 26, 2018. doi: 10.12998/wjcc.v6.i14.836
Table 1 Genetic test results (possibly pathogenic genes)
| Gene (Location) | Nucleic acid variation (Amino acid variation) | Heterozygosity | Disease (Genetic model) | Pathogenicity | Parent source |
| NTRK1 (exon 14) | NM_002529 | Com_het | Congenital sensory neuropathy (AR) | Likely pathogenic | Maternal |
| c.A1787G (p.Asp596Gly) | |||||
| NTRK1 (intron 14) | NM_002529 | Com_het | Congenital insensitivity to pain with anhidrosis (AR) | Pathogenic | Paternal |
| c.1806-2A>G | |||||
| GORAB (exon 4) | NM_002529 | Het | Senile skin with dysplasia of bone (AR) | Likely pathogenic | Maternal |
| c.G733A (p.Ala245Thr) |
- Citation: Wang R, Liu Y, Zhou YY, Wang JY, Xu ZJ, Chen SY, Wang QQ, Yuan P. Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. World J Clin Cases 2018; 6(14): 836-841
- URL: https://www.wjgnet.com/2307-8960/full/v6/i14/836.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v6.i14.836