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Open Access 01-12-2022 | Hypopigmentation | Research

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

Authors: Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao

Published in: Italian Journal of Pediatrics | Issue 1/2022

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 29 type I deletion, 56 type II deletion, 6 atypical deletion, 11 heterodisomy UPD, and 8 isodisomy UPD. The UPD group had significantly higher maternal age (31.4 ± 3.4 vs 27.8 ± 3.8 years), more anxiety (64.29% vs 26.09%) and autistic traits (57.14% vs 26.09%), and less hypopigmentation (42.11% vs 68.24%) and skin picking (42.86% vs 71.01%) than the deletion group. The type I deletion group was diagnosed at earlier age (3.7 ± 3.3 vs 6.2 ± 3.2 years) and more common in speech delay (95.45% vs 63.83%) than the type II. The isodisomy UPD group showed a higher tendency of anxiety (83.33% vs 50%) than the heterodisomy. GH treatment for 1 year significantly improved the SDS of height (− 0.43 ± 0.68 vs − 1.32 ± 1.19) and IGF-I (− 0.45 ± 0.48 vs − 1.97 ± 1.12). No significant changes were found in thyroid function or glucose/lipid metabolism.

Conclusion

We explored the physical, psychological and behavioral phenotype-genotype associations as well as the GH treatment effect on PWS from a large cohort of Chinese pediatric patients. Our data might promote pediatricians' recognition and early diagnosis of PWS.

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Title: Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome
Authors: Lu Zhang
Xiaoliang Liu
Yunjing Zhao
Qingyi Wang
Yuanyuan Zhang
Haiming Gao
Bijun Zhang
Wanting Cui
Yanyan Zhao
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Hypopigmentation
Published in: Italian Journal of Pediatrics / Issue 1/2022
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-022-01319-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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