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.

Sundvall, MatsUppsala universitet,Medicinsk genetik (author)
Johnsen, ElsyUppsala universitet,Medicinsk genetik (author)
Warne, GL (author)
Forrest, SM (author)
Zajac, JD (author)
Richards, A (author)
Ravine, D (author)
Landegren, UlfUppsala universitet,Medicinsk genetik(Swepub:uu)ulfland (author)
Pettersson, UlfUppsala universitet,Medicinsk genetik(Swepub:uu)ulfpette (author)
Uppsala universitetMedicinsk genetik (creator_code:org_t)

By the author/editor: Lagerström-Fermé ...; Sundvall, Mats; Johnsen, Elsy; Warne, GL; Forrest, SM; Zajac, JD; show more...; Richards, A; Ravine, D; Landegren, Ulf; Pettersson, Ulf; show less...

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