Expanding the Genetic Landscape of Congenital Insensitivity to Pain

These data broaden the genetic spectrum of CIP and reinforce <i>PRDM12</i> as a key gene in pain perception. They also emphasize that diagnostic analysis should target both single-nucleotide variants and polyalanine expansions, which are often underrepresented in whole-exome or whole-genome sequencing data.

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Publication Details

Journal
Neurology Genetics
Published
2026-02-01
DOI
https://doi.org/10.1212/nxg.0000000000200346
Primary Topic
Pain Management and Opioid Use
Type
article
Field-Weighted Citation Impact
0.00
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Expanding the Genetic Landscape of Congenital Insensitivity to Pain

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Expanding the Genetic Landscape of Congenital Insensitivity to Pain

Oranee Sanmaneechai, Pimchanok Kulsirichawaroj, Numpueng Ridchuayrod, Theeraphong Pho-iam, Chanin Limwongse, Stephan Zuchner, Surachai Likasitwattanakul
article en

Abstract

These data broaden the genetic spectrum of CIP and reinforce <i>PRDM12</i> as a key gene in pain perception. They also emphasize that diagnostic analysis should target both single-nucleotide variants and polyalanine expansions, which are often underrepresented in whole-exome or whole-genome sequencing data.

Neurology GeneticsVol. 12(1)
Siriraj Hospital (TH), Mahidol University (TH), University of Miami Health System (US)
Zero hunger
Openalex Percentile: Top 70%
Pain Management and Opioid Use
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