Genetics of the Costello syndrome.

  • Iosif W Lurie
  • Published 1994 in American journal of medical genetics

Abstract

Although Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs of the probands were all normal. In 6 families on whom pedigrees were not available, 2 affected sib-pairs were born. Even if there were no normal offspring in these latter families, the occurrence of the Costello syndrome in only 2 of 39 sibs virtually excludes an autosomal recessive inheritance pattern (P = 0.999). Moreover, a significant increase of mean paternal age (38.0 yr) and paternal-maternal age difference (7.36 yr) suggests sporadic autosomal dominant mutations as a likely cause. The 2 reported cases of affected sibs born to healthy parents may be explained by gonadal mosaicism, although heterogeneity with a small proportion of recessively inherited cases cannot be excluded.

Statistics

0200400600'99'01'03'05'07'09'11'13'15'17
Citations per Year

483 Citations

Semantic Scholar estimates that this publication has 483 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Lurie1994GeneticsOT, title={Genetics of the Costello syndrome.}, author={Iosif W Lurie}, journal={American journal of medical genetics}, year={1994}, volume={52 3}, pages={358-9} }