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Craniofacial-deafness-hand syndrome revisited
Annemarie Sommer1, Dennis W Bartholomew
1Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children's Hospital, Columbus, Ohio 43205-2696, USA. asommer@chi.osu.edu
American Journal of Medical Genetics. Part A
|October 14, 2003
Summary
A rare craniofacial syndrome with hearing loss and hand deformities is linked to a specific PAX3 gene mutation. This 20-year follow-up confirms the genetic cause and clinical features.
Area of Science:
- Genetics
- Medical Genetics
- Dysmorphology
Background:
- Sommer syndrome, characterized by craniofacial anomalies, sensorineural deafness, and hand deformities, was first described in 1983.
- The syndrome presents with a distinct set of features including midfacial hypoplasia, hypertelorism, specific palpebral fissure slant, nasal anomalies, and digital contractures.
Observation:
- A family with three affected members across two generations presented with the characteristic features of Sommer syndrome.
- Clinical manifestations included a flat facial profile, hypertelorism, antimongoloid palpebral slant, depressed nasal bridge, small mouth, profound sensorineural hearing loss, and ulnar deviation with digital contractures.
Findings:
- Genetic analysis revealed a missense mutation (Asn47Lys) in the paired domain of the PAX3 gene in affected family members.
- This PAX3 mutation is identified as the causative genetic factor for the observed syndrome.
Implications:
- This study provides a 20-year follow-up, reinforcing the link between PAX3 mutations and this specific syndrome.
- Understanding the genetic basis of Sommer syndrome aids in diagnosis, genetic counseling, and potential therapeutic strategies for related conditions.