The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
- Stanford Univ. Medical Center, CA (United States)
- Children`s Hospital of Philadelphia, PA (United States)
Williams syndrome (WS) is a developmental disorder with multiple system manifestations, including supraval var aortic stenosis (SVAS), peripheral pulmonic stenosis, connective tissue abnormalities, short stature, characteristic personality profile and cognitive deficits, and variable hypercalcemia in infancy. It is caused by heterozygosity for a chromosomal deletion of part of band 7q11.23 including the elastin locus (ELN). Since disruption of the ELN gene causes autosomal dominant SVAS, it is assumed that ELN haploinsufficiency is responsible for the cardiovascular features of WS. The deletion that extends from the ELN locus in both directions is {ge}200 kb in size, although estimates of {ge}2 Mb are suggested by high-resolution chromosome banding and physical mapping studies. We have searched for additional dosage-sensitive genes within the deletion that may be responsible for the noncardiovascular features. We report here that the gene for replication factor C subunit 2 (RFC2) maps within the WS deletion region and was found to be deleted in all of 18 WS patients studied. The protein product of RFC2 is part of a multimeric complex involved in DNA elongation during replication. 14 refs., 3 figs.
- OSTI ID:
- 446950
- Journal Information:
- American Journal of Human Genetics, Vol. 58, Issue 6; Other Information: PBD: Jun 1996
- Country of Publication:
- United States
- Language:
- English
Similar Records
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth