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.
Authors
- Oranee Sanmaneechai (ORCID: https://orcid.org/0000-0002-4557-0387)
- Pimchanok Kulsirichawaroj (ORCID: https://orcid.org/0000-0002-9406-8481)
- Numpueng Ridchuayrod
- Theeraphong Pho-iam
- Chanin Limwongse
- Stephan Zuchner
- Surachai Likasitwattanakul
Institutions
- Siriraj Hospital (TH)
- Mahidol University (TH)
- University of Miami Health System (US)
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