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Clinical identification of a human equivalent to the short ear (se) murine phenotype
D Lacombe1, A Toutain, R J Gorlin
1Department of Pediatric Genetics, Pellegrin-Children's Hospital, University of Bordeaux II, France.
Abstract:
Mutations in the BMP-5 gene at the mouse short-ear locus alter size, shape, and number of many different skeletal elements, and greatly reduce the size of the external ear. The alterations in short-ear mice are confined to particular skeletal features and a human equivalent is not known. We report on 5 patients whose features fit into the clinical criteria of the EPS (ear, patella, short stature) syndrome characterized by very short external ears, small jaw, growth retardation, and different skeletal abnormalities including absent patellae. We postulate on clinical data and phenotype comparisons that some EPS cases might be a human equivalent to the short ear murine disorder.
Insights
Mutations in the BMP-5 gene cause skeletal and ear defects in mice. Similar features in 5 patients suggest a possible human equivalent to this murine disorder, known as ear, patella, short stature syndrome.
Area of Science:
- Genetics
- Developmental Biology
- Skeletal Biology
Background:
- The mouse short-ear (se) locus, associated with Bone Morphogenetic Protein 5 (BMP-5) gene mutations, affects skeletal development and external ear size.
- Previous research identified specific skeletal alterations in short-ear mice, but a direct human equivalent remained unknown.
Observation:
- Five patients presented with clinical features aligning with ear, patella, short stature (EPS) syndrome.
- These features included extremely short external ears, mandibular hypoplasia (small jaw), growth retardation, and skeletal abnormalities such as absent patellae.
Findings:
- The study postulates that certain cases of EPS syndrome may represent a human manifestation of the murine short-ear disorder.
- Phenotypic comparisons between EPS patients and short-ear mice support this potential homology.
Implications:
- This research may lead to identifying the genetic basis of EPS syndrome.
- Understanding the link between murine and human disorders can advance diagnostics and therapeutic strategies for skeletal dysplasias.