Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Completed

• Conditions: Fetus Disorder; Mental Disorder

• Registration Number: NCT04155944
• Lead Sponsor: National Cheng-Kung University Hospital

Brief 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.

Study Timeline

• Study Start: 2013-08
• Primary Completion: 2014-12
• Study Completion: 2014-12
• Status Verified: 2018-08
• Study First Submitted: 2019-10-28
• Study First Submitted QC: 2019-11-05
• Study First Posted: 2019-11-07
• Last Update Submitted: 2023-04-05
• Last Update Posted: 2023-04-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

• Individual with clinical features related to Prader-Willi syndrome or Angelman syndrome;
• Fetus with suspicious deletion or duplication of chromosome 15q11.2-q13 visible by the microscope;
• Fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13
• Fetus with mosaic trisomy 15

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
M-PCR(methylation-specific PCR)	up to 4 weeks after diagnosis	Abnormal pattern of M-PCR can identify PWS or AS
FISH(fluorescent in-situ hybridization)	up to 4 weeks after diagnosis	A "FISH" test will identify PWS/AS due to a deletion, but it will not identify those by UPD or an imprinting error.
STR(short tandem repeat) for UPD (uniparental disomy)	up to 4 weeks after diagnosis	A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.
MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)	up to 4 weeks after diagnosis	Use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD

Trial Locations

Locations (1)

National Cheng-Kung University Hospital; 🇨🇳 Tainan, Taiwan