Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00078656" target="_blank" >RIV/65269705:_____/23:00078656 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/23:10470190 RIV/00064203:_____/23:10470190

Result on the web

<a href="https://academic.oup.com/brain/article/146/12/4880/7285774?login=true" target="_blank" >https://academic.oup.com/brain/article/146/12/4880/7285774?login=true</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/brain/awad328" target="_blank" >10.1093/brain/awad328</a>

Result language

angličtina

Original language name

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Original language description

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited.Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the &gt;20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign.The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30210 - Clinical neurology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Brain

ISSN

0006-8950

e-ISSN

1460-2156

Volume of the periodical

146

Issue of the periodical within the volume

12

Country of publishing house

GB - UNITED KINGDOM

Number of pages

11

Pages from-to

4880-4890

UT code for WoS article

001098172300001

EID of the result in the Scopus database

2-s2.0-85178657182