PDF(Pubmed)
Abstract：
Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. The diagnosis is often challenging due to the nonspecific presentation of intellectual disability and developmental delay, often accompanied by dysmorphic facies. In this case, we present an 18-year-old female with intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and dysmorphic facies who had undergone single nucleotide polymorphism (SNP) microarray and fragile X polymerase chain reaction (PCR) testing five years prior to diagnosis, both returning with negative results for genetic anomalies. The patient was managed symptomatically for ADHD until recently when the topic of a possible genetic condition was reintroduced to the family, who were agreeable to a referral to a medical geneticist and repeat genetic testing. Repeat testing, but now with whole-exome sequence (WES) analysis, revealed a pathogenic variant of the USP7 gene, prompting the diagnosis of Hao-Fountain syndrome. Our patient continues to be symptomatically managed for ADHD and intellectual disability. Educational resources and support group information were also shared and discussed with the patient and her family in the wake of this rare diagnosis.
摘要：
Hao-Fountain综合征（HAFOUS）是一种罕见的神经发育障碍，由泛素特异性蛋白酶7（USP7）基因突变引起的内体再循环。由于智力障碍和发育迟缓的非特异性表现，诊断通常具有挑战性。常伴有异形相。在这种情况下,我们提出了一个18岁的女性智力残疾（ID），注意缺陷/多动障碍（ADHD），和在诊断前五年接受单核苷酸多态性（SNP）微阵列和脆性X聚合酶链反应（PCR）测试的异形相，两者都以遗传异常的阴性结果返回。直到最近，当一个可能的遗传病的主题被重新引入家庭时，该患者对ADHD进行了对症治疗。他们同意转诊给医学遗传学家并重复基因检测。重复测试,但是现在有了全外显子组序列(WES)分析，揭示了USP7基因的致病变异，提示Hao-Fountain综合征的诊断。我们的患者继续对ADHD和智力障碍进行对症管理。在这种罕见的诊断之后，还与患者及其家人共享和讨论了教育资源和支持小组信息。
