Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis

S Amin; N Forrester; A Norman; A Lux; K Vijayakumar

doi:10.1111/cge.13064

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis

Clin Genet. 2017 Nov;92(5):559-560. doi: 10.1111/cge.13064. Epub 2017 Sep 21.

Authors

S Amin¹, N Forrester², A Norman², A Lux¹, K Vijayakumar¹

Affiliations

¹ Paediatric Neurology, University Hospitals Bristol, Bristol, UK.
² Clinical Genetics, North Bristol NHS Trust, Bristol, UK.

PMID: 28940190
DOI: 10.1111/cge.13064

Abstract

Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain).

Publication types

Case Reports
Letter

MeSH terms

Amino Acids
Humans
Hypohidrosis / complications*
Hypohidrosis / genetics*
Infant, Newborn
Male
Pain Insensitivity, Congenital / complications*
Pain Insensitivity, Congenital / genetics*
Protein Domains
Receptor, trkA / chemistry*
Receptor, trkA / genetics*
Sequence Deletion / genetics*

Substances

Amino Acids
Receptor, trkA