The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

ABSTRACT:

Purpose

Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. The causality of the reported variants in the context of the patients' phenotypes was questioned, as MAGEL2 whole-gene deletions seem to cause little or no clinical phenotype.

Methods

Here we report a total of 18 newly identified individuals with Schaaf-Yang syndrome from 14 families, including 1 family with 3 individuals found to be affected with a truncating variant of MAGEL2, 11 individuals who are clinically a

SUBMITTER: Fountain MD 

PROVIDER: S-EPMC5116288 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature