Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype–phenotype insights
Escobar syndrome is a rare congenital disorder characterized by contractures, pterygia and craniofacial anomalies. Here we report a school-age girl harboring compound-heterozygous CHRNG variants, NM_005199.5:c.[2T>C];[428C>G] p.[(Met1?)];[(Pro143Arg)]. She presented with neonatal asphyxia, congenital limb contractures and low-frequency hearing loss but without pterygia, maintaining normal cognition. This case underscores the phenotypic variability of CHRNG-related disease and alerts clinicians to recognize milder presentations that lack pterygia and to consider targeted genetic testin.
Authors
- Kimitoshi Nakamura (ORCID: https://orcid.org/0000-0001-6659-4145)
- Keishin Sugawara (ORCID: https://orcid.org/0000-0002-1345-6459)
- Eriko Koshimizu (ORCID: https://orcid.org/0000-0001-9947-3315)
- Mitsuharu Ueda (ORCID: https://orcid.org/0000-0002-6814-0582)
- Hiroe Ueno
- Suzuran Saito
- Jun Kido
- Yohei Misumi
- Naomichi Matsumoto
Institutions
- Kumamoto Health Science University (JP)
- Yokohama City University Hospital (JP)
- National Center of Neurology and Psychiatry (JP)
- Kumamoto University Hospital (JP)
- Yokohama City University (JP)
- Kumamoto University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2026-03-14
- DOI
- https://doi.org/10.1038/s41439-026-00340-8
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science