Work

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report

Year: 2024

Type: article

Abstract: Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Source: Journal of Yeungnam Medical Science

DOI: 10.12701/jyms.2024.01137

Authors: Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

Institution: Sahmyook Medical Center

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405259967