X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Eur J Hum Genet. 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692.

Abstract

Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Child
  • Child, Preschool
  • DNA / genetics
  • Family Health
  • Fatal Outcome
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Infant
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Radius / abnormalities*
  • Thumb / abnormalities*
  • X Chromosome / genetics*

Substances

  • DNA

Associated data

  • OMIM/312190
  • OMIM/314390