Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04155944

Enrollment

Registered

2019-11-07

Start date

2013-08-31

Completion date

2014-12-31

Last updated

2023-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Fetus Disorder, Mental Disorder

Keywords

M-PCR, FISH, MLPA, deletion, uniparental disomy, imprinting mutation

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 45 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Countries

Taiwan

Outcome results