Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

Am J Med Genet A. 2005 Apr 30;134(3):318-20. doi: 10.1002/ajmg.a.30645.

Abstract

We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Bone Morphogenetic Proteins / genetics*
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Carpal Bones / abnormalities
  • Carpal Bones / diagnostic imaging
  • Carrier Proteins
  • Child
  • DNA Mutational Analysis
  • Heterozygote
  • Humans
  • Karyotyping
  • Male
  • Mutation*
  • Mutation, Missense
  • Radiography
  • Siblings
  • Synostosis / pathology*
  • Tarsal Bones / abnormalities
  • Tarsal Bones / diagnostic imaging
  • Toes / abnormalities*

Substances

  • Bone Morphogenetic Proteins
  • Carrier Proteins
  • noggin protein