CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant.

IF 0.8 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2026-03-30 DOI:10.1159/000551813

Irem Gokdemir, Sirmen Kizilcan Cetin, Esra Kilic, Gonul Buyukyilmaz, Duygu Deligozoglu, Fatih Gurbuz, Mehmet Boyraz

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引用次数: 0

Abstract

Introduction: CHOPS syndrome is a rare, multisystem disorder caused by heterozygous pathogenic variants in the AFF4 gene. The acronym CHOPS is characterized by Cognitive impairment and coarse facial features (C), Heart defects (H), Obesity (O), Pulmonary involvement (P), and Short stature/skeletal dysplasia (S). The syndrome is caused by variants in AFF4, which encodes a protein critical for RNA polymerase II elongation and transcriptional regulation.

Case presentation: A 6-year-old male patient with CHOPS syndrome was diagnosed with a heterozygous de novo c.764C>T (p.Ala255Val) variant in AFF4. The patient exhibited significant growth failure despite an adequate growth hormone response. Also, the patient presented with impairment, dysmorphic features, and neuroimaging findings indicative of cortical atrophy and corpus callosum hypoplasia. Additional features included congenital cataracts, laryngomalacia, and mild mitral insufficiency.

Conclusion: This case report of CHOPS syndrome, caused by a de novo AFF4 variant, highlights the multifactorial nature of growth and neurodevelopmental disturbances. Early genetic diagnosis and a multidisciplinary approach are essential for optimal patient care.

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猪排综合征：一种罕见的畸形综合征与新发AFF4基因变异。

简介：chop综合征是一种罕见的多系统疾病，由AFF4基因的杂合致病性变异引起。首字母缩略词chop的特征是认知障碍和粗糙的面部特征(C)，心脏缺陷(H)，肥胖(O)，肺部受累(P)和身材矮小/骨骼发育不良(S)。这种综合征是由AFF4的变异引起的，AFF4编码一种对RNA聚合酶II延伸和转录调节至关重要的蛋白质。病例介绍：一名6岁男性排骨综合征患者被诊断为af4的杂合新生c.764C>T （p.Ala255Val）变异。尽管有足够的生长激素反应，患者表现出明显的生长衰竭。此外，患者还表现出损伤、畸形特征和神经影像学表现，表明皮质萎缩和胼胝体发育不全。其他特征包括先天性白内障、喉软化和轻度二尖瓣功能不全。结论：本病例报告的chop综合征，由一个新的AFF4变异引起，突出了生长和神经发育障碍的多因素性质。早期的遗传诊断和多学科的方法是必不可少的最佳病人护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.