Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis - 10/08/16

Doi : 10.1016/j.pediatrneurol.2016.04.006

Qing-Li Wang, MD ^a,^b, Shanna Guo, MD ^a, Guangyou Duan, MD ^a, Ying Ying, MD ^a, Penghao Huang, MD ^a, Jing Yu Liu, PhD ^c, Xianwei Zhang, MD, PhD ^a,^⁎
^a Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
^b Department of Anesthesiology, Wuhan General Hospital of Guangzhou Military, Wuhan, China
^c Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, China

^∗Communications should be addressed to: Dr. Zhang; Department of Anesthesiology; Tongji Hospital; Tongji Medical College; Huazhong University of Science and Technology; No. 1095 Jiefang Road; Wuhan 430030, China.Department of Anesthesiology; Tongji HospitalTongji Medical College; Huazhong University of Science and TechnologyNo. 1095 Jiefang RoadWuhan430030China

Abstract

Background

Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients.

Methods

Patients were enrolled via social networking. Clinical features were investigated by interview, chart review, and physical examination. DNA was extracted from peripheral blood to genotype NTRK1 in patients and their parents. Variants identified were checked against a control cohort by high-throughput sequencing, and the effects of these variants were assessed in silico.

Results

Clinical features in five patients were cataloged, and six loss-of-function NTRK1 variants were identified, including a frameshift variant c.963delG, a nonsense variant c.1804C>T, an intron variant c.851-33T>A, and three missense variants c.1802T>G, c.2074C>T, and c.2311C>T.

Conclusions

The results expand the spectrum of clinical and genetic features of congenital insensitivity to pain with anhidrosis and will help facilitate analysis of genotype–phenotype association in the future.

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Keywords : congenital insensitivity to pain with anhidrosis, NTRK1, phenotype, genotype, variant

Plan

Introduction

Materials and Methods

Patient enrollment

NTRK1 screening

Functional analysis in silico

Screening in unaffected volunteers

Results

Patient summaries

Variant screening in controls

Analysis of missense variants

Analysis of intron variants

Discussion

Declaration of Conflicting Interests: The authors declared that there was no conflict of interest.

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Vol 61

P. 63-69 - août 2016 Retour au numéro

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Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis - 10/08/16

Abstract

Background

Methods

Results

Conclusions

Plan

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