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.
Lagerström-Fermér
M
M
Department of Medical Genetics, Biomedical Center, University of Uppsala, Sweden. maria.lagerstrom@medgen.uu.se
Sundvall
M
M
Johnsen
E
E
Warne
G L
GL
Forrest
S M
SM
Zajac
J D
JD
Rickards
A
A
Ravine
D
D
Landegren
U
U
Pettersson
U
U
D000483:Alleles; D001315:Australia; D003434:Crossing Over, Genetic; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012737:Sex Factors; D014960:X Chromosome / Q000235:genetics*
D005819:Genetic Markers