Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Mental Disorder Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04155944
• Other study ID #: B-ER-102-155-t
• Status: Completed
• Start date: August 2013
• Est. completion date: December 2014

Study information

• Verified date: August 2018
• Source: National Cheng-Kung University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: December 2014
• Est. primary completion date: December 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 45 Years

Eligibility

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:

Related Conditions & MeSH terms

• Disease
• Fetus Disorder
• Mental Disorder
• Mental Disorders

Locations

Country	Name	City	State
Taiwan	National Cheng-Kung University Hospital	Tainan

Sponsors (1)

Lead Sponsor	Collaborator
National Cheng-Kung University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

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