NCT04155944

Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 60 (actual)
• Sponsor: National Cheng-Kung University Hospital · Academic / Other
• Sex: All
• Age: 45 Years
• Healthy volunteers: Not accepted

Summary

In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.

Detailed description

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes of developmental impairment that result from loss of the expression of imprinted genes on the q11-q13 region of chromosome 15 (15q11-q13). Approximately 70%--75% of individuals affected with PWS and AS have an interstitial deletion of 15q11-q13. Regarding the remaining individuals with PWS, maternal uniparental disomy is the cause in 20% of cases, imprinting errors in 3% of cases, and chromosomal translocation in approximately 1% of cases. Regarding the remaining cases of AS, paternal uniparental disomy accounts for 2% of cases and mutations in the UBE3A gene for 20% of cases.The PWS/AS critical region was examined by fluorescence in situ hybridization (FISH), methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation dependent probe amplification(MS-MLPA). In a retrospective study at the National Chen-Kung University Hospital,Tainan, Taiwan, data were reviewed from cases that were referred for molecular diagnosis between January 1, 2001, and December 31, 2014.

Conditions

• Mental Disorder
• Fetus Disorder

Timeline

• Start date: 2013-08-01
• Primary completion: 2014-12-01
• Completion: 2014-12-01
• First posted: 2019-11-07
• Last updated: 2023-04-07

Locations

1 site across 1 country: Taiwan