新发现的最年轻的Grange综合征伴YY1AP1新双等位致病变异的病例。

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-06-01 Epub Date: 2023-01-26 DOI:10.1159/000527785

Taner Karakaya, Ayberk Turkyilmaz, Deniz Eris, Mehtap Kaya, Kupra Oksuz, Meltem Aygul Eryigit, Gizem Gönen

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引用次数: 0

摘要

简介:Grange综合征(OMIM 602531)以高血压、不同动脉(包括脑、肾、腹和冠状动脉)狭窄或闭塞的一系列症状为特征，并伴有不同程度的指短、骨脆性和先天性心脏缺陷。在一些案例中还报告了学习障碍。YY1AP1的双等位致病变异与该综合征有关。迄今为止，文献中仅报道了14例患有这种极端罕见综合征的个体(其中12例被分子证实)。病例介绍:我们在此报告一名11岁半的额外女性病例，她患有高血压、动脉导管未闭和短指，随后被证实携带一种新的纯合移码变异(c.2291del;p.Pro764Leufs*12)，通过全外显子组测序。结论:该报告扩展了Grange综合征的等位基因谱，并有助于深入了解YY1AP1在调节细胞过程中的潜在作用。

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The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.

Introduction: Grange syndrome (OMIM 602531) is characterized by a constellation of symptoms of hypertension, stenosis, or occlusion of different arteries (including the cerebral, renal, abdominal, and coronary vessels) with a variable occurrence of brachysyndactyly, bone fragility, and congenital heart defects. Learning disabilities were also reported in some cases. Biallelic pathogenic variants in YY1AP1 are associated with the syndrome. Only 14 individuals with this ultra-rare syndrome (12 of them were molecularly confirmed) have hitherto been reported in the literature.

Case presentation: We herein describe a 1^1/2-year-old additional female case of Grange syndrome with hypertension, patent ductus arteriosus, and brachysyndactyly who was subsequently confirmed to carry a novel homozygous frameshift variant (c.2291del; p.Pro764Leufs*12) in the YY1AP1 gene through whole-exome sequencing.

Conclusion: This report extends the allelic spectrum in Grange syndrome and helps provide insight into the potential role of YY1AP1 in the regulation of cellular processes.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.