X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
1997 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 60, no 4, 910-916 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
1997. Vol. 60, no 4, 910-916 p.
IdentifiersURN: urn:nbn:se:uu:diva-51918PubMedID: 9106538OAI: oai:DiVA.org:uu-51918DiVA: diva2:79827