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首页> 美国卫生研究院文献>Molecular Syndromology >Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
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Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

机译：ANKRD11（16q24.3）的单倍剂量不足与认知障碍没有必然联系但显示出银-罗素综合征的临床重叠

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Microdeletions in 16q24.3 are associated with intellectual disability and a specific phenotype, e.g. short stature and a prominent forehead. The 16q24.3 microdeletion syndrome shows a broad phenotypic overlap with the KBG syndrome, which is caused by mutations within the ANKRD11 gene. Furthermore, both KBG and the 16q24.3 microdeletion syndromes show clinical findings reminiscent of Silver-Russell syndrome (SRS), an imprinting disorder characterized by severe primordial growth retardation. In a cohort of patients referred as SRS, we previously identified a 16q24.3 deletion, but at that time, only patients with larger imbalances in 16q24.3 and intellectual disability had been published. Considering the recent description of the ANKRD11 gene as the causative factor for the 2 16q24.3-associated disorders, we now classified our patient as a 16q24.3 microdeletion syndrome patient exhibiting some characteristic features but normal intelligence. Our case illustrates the broad clinical spectrum associated with microdeletions, and we confirm that the 16q24.3 microdeletion syndrome is a further microdeletion syndrome with very variable expressivity. Indeed, our case is the first 16q24.3 patient of normal intelligence, but we assume that this variant is present in further mentally healthy probands which have not yet been tested. In conclusion, the detection of the 16q24.3 deletion in a proband of unremarkable intellectual capacities once again illustrates the need to perform molecular karyotyping in dysmorphic patients with normal intelligence.
机译：16q24.3中的微缺失与智力障碍和特定表型有关，例如身材矮小，额头突出。 16q24.3微缺失综合征与KBG综合征表现出广泛的表型重叠，这是由ANKRD11基因内的突变引起的。此外，KBG和16q24.3微缺失综合症均显示出临床表现，使人联想到银-罗素综合症（SRS），这是一种以严重的原始生长发育迟缓为特征的印记障碍。在先前称为SRS的一组患者中，我们先前确定了16q24.3缺失，但那时，仅发表了16q24.3失衡较大且智力残疾的患者。考虑到最近对ANKRD11基因的描述是2 16q24.3相关疾病的病因，我们现在将该患者分类为16q24.3微缺失综合症患者，该患者表现出一些特征性但智力正常。我们的病例说明了与微缺失有关的广泛临床范围，并且我们确认16q24.3微缺失综合症是具有可变性的另一种微缺失综合症。的确，我们的病例是第一位智力正常的16q24.3患者，但我们认为这种变异存在于尚未经过测试的其他心理健康的先证者中。总之，在智力水平不显着的先证者中检测到16q24.3缺失再次说明，需要对智力正常的畸形患者进行分子核型分析。

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