Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

Am J Med Genet A. 2013 Sep;161A(9):2274-80. doi: 10.1002/ajmg.a.35437. Epub 2013 Aug 6.

Abstract

This paper reviews the molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively.

Keywords: WNT7A; human; mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amenorrhea / diagnosis*
  • Amenorrhea / genetics*
  • Ectromelia / diagnosis*
  • Ectromelia / genetics*
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / genetics*
  • Genetic Association Studies
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Mutation
  • Pelvic Bones / abnormalities*
  • Phenotype
  • Uterus / abnormalities*
  • Wnt Proteins / genetics

Substances

  • WNT7A protein, human
  • Wnt Proteins

Supplementary concepts

  • Al Awadi syndrome
  • Fuhrmann syndrome