Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

✍ Scribed by Bottani, A. ;Robinson, W. P. ;Delozier-Blanchet, C. D. ;Engel, E. ;Morris, M. A. ;Schmitt, B. ;Thun-Hohenstein, L. ;Schinzel, A.

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 604 KB
• Volume: 51
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320510109

✦ Synopsis

Abstract

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age‐dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11–q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late‐onset mild seizures; as they grew older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. © 1994 Wiley‐Liss, Inc.