title: X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
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.
authors.affiliation: Department of Medical Genetics, Biomedical Center, University of Uppsala, Sweden. maria.lagerstrom@medgen.uu.se
authors.forename: M
authors.initials: M
authors.lastname: Lagerström-Fermér
authors.forename: M
authors.initials: M
authors.lastname: Sundvall
authors.forename: E
authors.initials: E
authors.lastname: Johnsen
authors.forename: G L
authors.initials: GL
authors.lastname: Warne
authors.forename: S M
authors.initials: SM
authors.lastname: Forrest
authors.forename: J D
authors.initials: JD
authors.lastname: Zajac
authors.forename: A
authors.initials: A
authors.lastname: Rickards
authors.forename: D
authors.initials: D
authors.lastname: Ravine
authors.forename: U
authors.initials: U
authors.lastname: Landegren
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
mesh_terms: 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*
chemical_list: D005819:Genetic Markers