Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

@article{Piccolo2019GeleophysicDN,
  title={Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking},
  author={P. Piccolo and Valeria Sabatino and P. Mithbaokar and Elena V. Polishchuck and S. Law and Lorena Magraner-Pardo and T. Pons and R. Polishchuck and N. Brunetti-Pierri},
  journal={Molecular Genetics and Metabolism Reports},
  year={2019},
  volume={21}
}
Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, and laryngotracheal stenosis. Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition. We found that three previously described cases of GPHYSD diagnosed clinically were homozygote or compound heterozygotes for five ADAMTSL2 variants, four of which not being previously reported. By… Expand
2 Citations

References

SHOWING 1-10 OF 34 REFERENCES
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
Novel Mutations in Geleophysic Dysplasia Type 1
  • P. Porayette, D. Fruitman, +5 authors A. Perez-Atayde
  • Biology, Medicine
  • Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • 2014
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Similarity of geleophysic dysplasia and weill–marchesani syndrome
...
1
2
3
4
...