1. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
- Author
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Lagerström-Fermér M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, and Pettersson U
- Subjects
- Alleles, Australia, Crossing Over, Genetic, Female, Genetic Markers, Heterozygote, Humans, Male, Pedigree, Sex Factors, Genes, Recessive, Genetic Linkage, Hypopituitarism genetics, Multigene Family, Sex Chromosome Aberrations genetics, X Chromosome genetics
- Abstract
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.
- Published
- 1997