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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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.[1]


  1. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Lagerström-Fermér, M., Sundvall, M., Johnsen, E., Warne, G.L., Forrest, S.M., Zajac, J.D., Rickards, A., Ravine, D., Landegren, U., Pettersson, U. Am. J. Hum. Genet. (1997) [Pubmed]
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