Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

ABSTRACT:

Background

Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequenced MAGEL2 in patients suspected Prader-Willi syndrome (PWS) to delineate clinical presentation of SYS. We examined 105 patients with clinically suspected PWS but without a specific PWS genetic alteration. Sanger sequencing of the entire MAGEL2 gene and methylation-specific restriction enzyme treatment to detect the parent of origin were performed. Clinical presentation was retrospectively assessed in detail.

Results

Truncating variants in MAGEL2 were detected in six patients (5.7%), including a pair of siblings. All truncating variants i

SUBMITTER: Negishi Y 

PROVIDER: S-EPMC6888944 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature