Toward the gene(s) for Wiedemann-Beckwith syndrome and associated tumors in two different regions of 11p15

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133517

Henry, J; Chehenase, V; Boulevin, C ^[1]

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1. INSERM, Paris (France); and others

Wiedemann-Beckwith syndrome (WBS) is a malformation syndrome associated with predisposition to different types of tumors (WT, ADCC). Cytogenetic and familial studies mapped the WBS locus to 11p15.5. Genomic imprinting has been implicated in the expression of the syndrome. Using 11p15 specific markers we have determined the parental origin of both chromosomes 11 in sporadic WBS cases. Probands in 5 out of 26 informative families (25%) displayed uniparental disomy (UPD) corresponding to a paternal isodisomy for region 11p15.5. Mosaic phenotypes reflect the timing of their origin and the fate of cells involved as well as the cell-specific pattern of imprinting. Somatic mosaicism for UPD may thus explain the incomplete forms of WBS, the association of hemihypertrophy in sporadic WBS and even some cases of isolated hemihypertrophy. Moreover, the risk (60%) of developing a tumor seems higher for patients with paternal 11p UPD than for WBS patients in general (7.5%). Two different genomic libraries specific for region 11p15.5 were constructed and screened to isolate and characterize the gene(s) responsible for WBS and/or tumor progression. The characterization and and the localization of these cDNAs are in progress. 5 CA repeats genetically mapped in 11p15 were used to isolate YACs (CEPH). These CA repeats are now physically mapped using a panel of hybrids specific for the 11p15 region, and the contigs of YACs mapping in the regions of interest will be used to isolate coding sequences.

• OSTI ID: 133517
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL EVOLUTION
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
CONTIGS
DNA HYBRIDIZATION
DNA-CLONING
FLUORESCENCE
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOMES
MOSAICISM
NEOPLASMS
PATIENTS
PHENOTYPE
SOMATIC MUTATIONS
YEASTS