BACKGROUND CHOPS syndrome, caused by a mutation in the AFF4 gene, is a recently established and extremely rare genetic disorder, which has moderate phenotypic overlap with Cornelia de Lange syndrome. The main phenotypes include characteristic facial features, short stature, obesity, skeletal and pulmonary involvement, and neurodevelopmental impairment. CASE REPORT We report on a Korean girl with CHOPS syndrome presenting with an atypical manifestation. The patient was referred to the out-patient clinic to evaluate the underlying etiology of short stature, obesity, developmental delay, and Moyamoya disease. The patient showed characteristic facial features including a round face, thick eyebrows, and synophrys. Her developmental milestones had been delayed since infancy and a moderate degree of intellectual disability persisted. She was also diagnosed with Moyamoya disease at 6 years of age and had undergone synangiosis surgery thrice. Her renal arteries and infrarenal aorta were diffusely narrowed. A novel de novo missense variant, c.758C > T (p.Pro253Leu) in AFF4 was identified by whole exome sequencing. No additional candidate variants for her vascular manifestation were found except a susceptibility variant, c.14429G > A (p.Arg4810Lys) in RNF213, inherited from asymptomatic mother. CONCLUSION This is the first case of CHOPS syndrome accompanied by systemic vasculopathy. More clinical observations and functional studies are required to clarify this association.

中文翻译：

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CHOPS综合征合并烟雾病和全身血管病变1例

背景 CHOPS 综合征由 AFF4 基因突变引起，是一种新近确立的极其罕见的遗传疾病，与 Cornelia de Lange 综合征具有中度表型重叠。主要表型包括特征性面部特征、身材矮小、肥胖、骨骼和肺部受累以及神经发育障碍。病例报告 我们报告了一名患有 CHOPS 综合征的韩国女孩表现出非典型表现。患者被转诊至门诊以评估身材矮小、肥胖、发育迟缓和烟雾病的潜在病因。患者表现出典型的面部特征，包括圆脸、浓眉和阴部。她的发育里程碑从婴儿时期就被推迟了，中等程度的智力障碍持续存在。她还在 6 岁时被诊断出患有烟雾病，并接受了三次联合手术。她的肾动脉和肾下主动脉广泛狭窄。通过全外显子组测序鉴定了 AFF4 中的一种新的从头错义变体 c.758C > T (p.Pro253Leu)。除了从无症状母亲遗传的 RNF213 中的易感性变异 c.14429G > A (p.Arg4810Lys) 外，没有发现其他血管表现的候选变异。结论 这是首例伴有全身血管病变的CHOPS综合征。需要更多的临床观察和功能研究来阐明这种关联。AFF4 中的 Pro253Leu) 通过全外显子组测序鉴定。除了从无症状母亲遗传的 RNF213 中的易感性变异 c.14429G > A (p.Arg4810Lys) 外，没有发现其他血管表现的候选变异。结论 这是首例伴有全身血管病变的CHOPS综合征。需要更多的临床观察和功能研究来阐明这种关联。AFF4 中的 Pro253Leu) 通过全外显子组测序鉴定。除了从无症状母亲遗传的 RNF213 中的易感性变异 c.14429G > A (p.Arg4810Lys) 外，没有发现其他血管表现的候选变异。结论 这是首例伴有全身血管病变的CHOPS综合征。需要更多的临床观察和功能研究来阐明这种关联。