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Published on: October 20, 2023
[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay]
Izabel Maryalexandra Rios-Flores1, Lucina Bobadilla-Morales2, Christian Peña Padilla1
1Hospital Civil de Guadalajara "Dr. Juan I. Menchaca", División de Pediatría, Servicio de Genética. Guadalajara, Jalisco, México.
Background:
Prader Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by deletions or methylation defects, making a loss of expression of imprinted genes located in the 15q11-q13 region, and these can be assessed by different cytogenomic and molecular techniques. We report a case series of patients with PWS and AS evaluated through the MS-MLPA assay.
Clinical Cases:
We studied four patients with a clinical diagnosis of PWS and another with AS, evaluated as far as possible with karyotype and FISH, and with MS-MLPA assay for the 15q11-q13 region in all cases. In patients with PWS, neonatal hypotonia was the main reason for consultation and in three of them we identified a deletion of 15q11-q13 by MS-MLPA, also confirmed by FISH; and in the other one, an abnormal methylation pattern consistent with a maternal uniparental disomy. The patient with AS presented with a typical picture which led to the identification of a deletion in 15q11-q13 by MS-MLPA, also confirmed by FISH.
Conclusions:
The use of the MS-MLPA assay for the 15q11-q13 region was very useful for the diagnosis and identification of the genomic and epigenetic defects involved in either PWS and AS.
