title: Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.
abstract: We have identified a novel interstitial duplication at Xq26.1-q27.3 in a previously reported family with X-linked recessive hypopituitarism [1]. Mapping of the duplication was carried out using interphase FISH analysis of over 60 bacterial genomic clones from Xq25-q28. The proximal and distal breakpoints of the duplication are contained within the 432N13 and 91O18 clones, respectively, and are separated by approximately 9 Mb. Comparison with a recently published 13-Mb duplication in another XH family [2] indicated that the duplication break-points in these families were different. Therefore, we conclude that X-linked hypopituitarism is caused by increased dosage of a gene that is critical for pituitary development and that the causative gene is located within the 9-Mb duplicated region that we have defined.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia, 3052.
authors.forename: Nicola M
authors.initials: NM
authors.lastname: Solomon
authors.forename: Sara
authors.initials: S
authors.lastname: Nouri
authors.forename: Garry L
authors.initials: GL
authors.lastname: Warne
authors.forename: Maria
authors.initials: M
authors.lastname: Lagerström-Fermér
authors.forename: Susan M
authors.initials: SM
authors.lastname: Forrest
authors.forename: Paul Q
authors.initials: PQ
authors.lastname: Thomas
mesh_terms: D004303:Dosage Compensation, Genetic; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D008040:Genetic Linkage; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020161:Physical Chromosome Mapping; D014960:X Chromosome / Q000235:genetics