Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization

Journal Article · Tue Dec 01 04:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6707564

Fantes, J A; Bickmore, W A; Fletcher, J M; Hanson, I M; Heyningen, V van ^[1]; Ballesta, F ^[2]

---

1. Western General Hospital, Edinburgh (United Kingdom)
2. Hospital Clinic 1, Barcelona (Spain)

Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. They have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery. The mother, who has aniridia, was also found to carry a deletion including both the aniridia candidate gene (AN2) and the Wilms tumor predisposition gene (WT1). This is therefore a rare case of an inherited WAGR deletion. Wilms tumor has so far only been associated with sporadic de novo aniridia cases. The authors have shown that a cosmid probe for a candidate aniridia gene, homologous to the mouse Pax-6 gene, is deleted in cell lines from aniridia patients with previously characterized deletions at 11p13, while another cosmid marker mapping between two aniridia-associated translocation breakpoints (and hence a second candidate marker) is present on both chromosomes. These results support the Pax-6 homologue as a strong candidate for the AN2 gene. FISH with cosmid probes has proved to be a fast and reliable technique for the molecular analysis of deletions. It can be used with limited amounts of material and has strong potential for clinical applications. 41 refs., 1 figs., 3 tabs.

• OSTI ID: 6707564
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:6; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CHROMOSOMES
DISEASES
EYES
FACE
FLUORESCENCE
GENETIC MAPPING
GENOME MUTATIONS
HEAD
HUMAN CHROMOSOMES
HYBRIDIZATION
LUMINESCENCE
MAPPING
MENTAL DISORDERS
MUTATIONS
ORGANS
PATIENTS
PROBES
SENSE ORGANS
TRANSLOCATION
UROGENITAL SYSTEM DISEASES