Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.

ABSTRACT:

Background

Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic subtypes.

Methods

A total of 110 PWS patients were diagnosed from 8,572 pediatric patients included from July 2013 to December 2021 by MLPA and MS-MLPA assays. Atypical deletions were defined by genomic CNV-sequencing. Maternal uniparental disomy (UPD) was subgrouped by microsatellite genotyping. Clinical data were collected for phenotype-genotype associations. Twenty-one patients received growth hormone (GH) treatment, and the anthropometric and laboratory parameters were evaluated and compared.

Results

Genetically, the 110 patients with PWS included

SUBMITTER: Zhang L 

PROVIDER: S-EPMC9308266 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature