Targeted gene(s)/phenotype under study
Geleophysic dysplasia (ORPHA:2623 or MIM 231050 / 614185 / 617809)
- ADAMTSL2 (OMIM 612277)
- FBN1 (OMIM 134797)
- LTBP3 (OMIM 602090)
Acromicric dysplasia (ORPHA: 969 or MIM102370)
- FBN1 (OMIM 134797)
- LTBP3 (OMIM 602090)
Abstract
Geleophysic dysplasia (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group characterized by severe short stature, short extremities, progressive joint limitation, and pseudo-muscular build. While AD is associated with a good prognosis, GD patients can develop progressive cardiac valvular thickening, tracheal stenosis, and respiratory insufficiency, responsible for life-threatening complications.
Dominant mutations in the FBN1 and LTBP3 genes are responsible for GD and AD, whereas recessive mutations in the ADAMTSL2 gene are associated only with GD. These genes encode proteins involved in the microfibrillar network, a key component of the extracellular matrix with an important role in its mechanical function and the bioavailability and activity of the TGF-β superfamily.
Natural history of AD and GD, especially cardiorespiratory issues into adulthood, is still misunderstood and has to be better delineated. The aim of this study is to further define the natural history of GD and AD into childhood and adulthood, to examine the causes of death among these patients, and finally, to propose guidelines for patient management.
Coordinating clinicians/researchers
- Pr Valérie Cormier-Daire
- Dr Pauline Marzin
Contact:
Institution
Fédération de Génétique médicale
Centre de référence pour les maladies osseuses constitutionnelles AP-HP
Hôpital Necker-Enfants malades
75015 Paris, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project? Yes