Genetics of human isolated acromesomelic dysplasia

Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27.

Abstract

Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia. In the present review, we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias.

Keywords: Acromesomelic dysplasia; BMPR1B; Clinical spectrum; Disease causing mutations; GDF5; NPR2.

Publication types

  • Review

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type I / genetics*
  • Consanguinity
  • Dwarfism / genetics*
  • Dwarfism / physiopathology
  • Growth Differentiation Factor 5 / genetics*
  • Humans
  • Musculoskeletal Abnormalities / genetics*
  • Musculoskeletal Abnormalities / physiopathology
  • Mutation
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / physiopathology
  • Pedigree
  • Phenotype
  • Receptors, Atrial Natriuretic Factor / genetics*

Substances

  • GDF5 protein, human
  • Growth Differentiation Factor 5
  • BMPR1B protein, human
  • Bone Morphogenetic Protein Receptors, Type I
  • Receptors, Atrial Natriuretic Factor
  • atrial natriuretic factor receptor B

Supplementary concepts

  • Acromesomelic dysplasia