X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26

Am J Hum Genet. 1997 Apr;60(4):910-6.


We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Australia
  • Crossing Over, Genetic
  • Female
  • Genes, Recessive*
  • Genetic Linkage*
  • Genetic Markers
  • Heterozygote
  • Humans
  • Hypopituitarism / genetics*
  • Male
  • Multigene Family*
  • Pedigree
  • Sex Chromosome Aberrations / genetics*
  • Sex Factors
  • X Chromosome / genetics*


  • Genetic Markers