Clinical trial NCT04155944: Diagnosis of Prader-Willi Syndrome and Angelman Syndrome
Official title: Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mental Disorder
Fetus Disorder
Keywords: M-PCR
FISH
MLPA
deletion
uniparental disomy
imprinting mutation
Lead sponsor: National Cheng-Kung University Hospital
Sponsor class: OTHER
First posted: 2019-11-07
Enrollment: 60
Sex: ALL
Maximum age (years): 45
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: During January 1, 2001, and December 31, 2014, cases were referred for molecular diagnosis such as individual with clinical features related to Prader-Willi syndrome or Angelman syndrome ; fetus with deletion or duplication of chromosome 15q11.2-q13 visible by the microscope; fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13 and fetus with mosaic trisomy 15

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.

Eligibility criteria: 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:

Primary outcomes:
measure: M-PCR(methylation-specific PCR)
timeFrame: up to 4 weeks after diagnosis
measure: FISH(fluorescent in-situ hybridization)
timeFrame: up to 4 weeks after diagnosis
measure: STR(short tandem repeat) for UPD (uniparental disomy)
timeFrame: up to 4 weeks after diagnosis
measure: MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)
timeFrame: up to 4 weeks after diagnosis
Secondary outcomes:
Other outcomes:
Locations:
city: Tainan
country: Taiwan
facility: National Cheng-Kung University Hospital
Study officials:
affiliation: Department of Obstetrics and Gynecology, National Chen-Kung University Hospital
name: Pao-Lin Kuo, MD
role: STUDY_DIRECTOR
References: