由15q11区域非SNORD基因相关的非典型缺失导致的经典普拉德-威利综合征表型

Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.

作者信息

Martínez Jazmín Belén, Arancedo Josefina María Álvarez, Solari Andrea, Claps Aldana, Castro Tania, Laiseca Julieta Eva, Taboas Melisa

机构信息

Department of Medical Genetics, National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Buenos Aires, Argentina.

Department of Molecular Genetics, National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Buenos Aires, Argentina.

出版信息

Clin Genet. 2025 Apr 8. doi: 10.1111/cge.14750.

DOI:10.1111/cge.14750

PMID:40200592

Abstract

Prader-Willi syndrome (PWS) is an uncommon genetic disorder caused by the lack of expression of a cluster of genes located in the 15q11.2q13 region, which are normally expressed only from the paternally-inherited allele due to genomic imprinting. PWS can result from a deletion of the 15q11.2q13 region on the paternally-inherited chromosome 15, maternal uniparental disomy, or imprinting defects. We report a patient with an atypical deletion within 15q11.2q13 and a PWS phenotype, including hypotonia, feeding difficulties, short stature, developmental delay, and dysmorphisms. She has a deletion from TUBGCP5 to SNURF-SNRPN (including the imprinting center) but not the SNORD region. These types of reports are crucial for further supporting the established role of the imprinting center in the pathophysiology and critical region of PWS.

摘要

普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，由位于15q11.2q13区域的一组基因缺乏表达引起，由于基因组印记，这些基因通常仅从父系遗传的等位基因表达。PWS可能由父系遗传的15号染色体上15q11.2q13区域的缺失、母系单亲二体或印记缺陷导致。我们报告了一名患有15q11.2q13内非典型缺失且具有PWS表型的患者，包括肌张力减退、喂养困难、身材矮小、发育迟缓及畸形。她存在从TUBGCP5到SNURF-SNRPN（包括印记中心）的缺失，但不包括SNORD区域。这类报告对于进一步支持印记中心在PWS病理生理学和关键区域中已确立的作用至关重要。