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TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy
Felix Boschann1, Kyra E Stuurman2, Christiaan de Bruin3
1Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
American Journal of Medical Genetics. Part A
|November 27, 2019
Summary
Catel-Manzke syndrome, a rare genetic disorder, is linked to TGDS gene variants. This study identifies new symptoms like short stature, broadening the disorder's known features.
Area of Science:
- Genetics
- Rare Diseases
- Pediatric Disorders
Background:
- Catel-Manzke syndrome is a rare autosomal recessive disorder.
- Key features include Pierre-Robin sequence and bilateral hyperphalangy, causing specific index finger malformations.
- TGDS pathogenic variants have been identified in typical cases.
Purpose of the Study:
- To report on two individuals with TGDS variants presenting with atypical features.
- To broaden the understanding of the phenotypic spectrum of TGDS-associated Catel-Manzke syndrome.
- To expand the indications for diagnostic testing for this condition.
Main Methods:
- Clinical evaluation of two individuals with TGDS pathogenic variants.
- Phenotypic analysis focusing on digital malformations and stature.
- Genetic variant analysis.
Main Results:
- Two individuals with TGDS variants showed mild radial deviation and ulnar clinodactyly without hyperphalangy.
- Both individuals exhibited disproportionate short stature, a previously unassociated feature.
- This expands the known phenotype of TGDS-associated Catel-Manzke syndrome.
Conclusions:
- The phenotypic spectrum of TGDS-associated Catel-Manzke syndrome is broader than previously recognized.
- Disproportionate short stature should be considered in the evaluation of potential Catel-Manzke syndrome cases.
- Diagnostic testing for TGDS variants may be indicated in a wider range of presentations.
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