Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

National Cheng-Kung University Hospital60 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Mental Disorder Fetus Disorder

Eligibility

Sex: ALLMax age: 45 Years

Medical Language ↔ Plain English

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:

Locations (1)

National Cheng-Kung University Hospital

Tainan, Taiwan

Outcomes

Primary Outcomes

M-PCR(methylation-specific PCR)

Abnormal pattern of M-PCR can identify PWS or AS

Time frame: up to 4 weeks after diagnosis

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.

Time frame: up to 4 weeks after diagnosis

STR(short tandem repeat) for UPD (uniparental disomy)

A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.

Time frame: up to 4 weeks after diagnosis

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

Time frame: up to 4 weeks after diagnosis

Data from ClinicalTrials.gov

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