Abstract：
BACKGROUND: Alterations in the genes of lysine methylation as Lysine-specific demethylase 6B (KDM6B) have been associated with multiple neurodevelopmental disorders. Until now, there are few cases in the literature attributed to KDM6B mutations. This gap may be due to the fact that the exome sequencing technique is still being implemented in routine clinical practice.
METHODS: A case is presented with its clinical and phenotypic characteristics. The sequence exome analysis was done with the Nimblegen SeqCap EZ MedExome capture kit+mtDNA 47Mb. The psychopathological approach from mental health was carried out through individual and family interviews, the Conner\'s questionnaires, ADHD rating scale, as well as the psychometry.
RESULTS: A frameshift variant in the KDM6B gene related to neurodevelopmental disorders with facial and body dysmorphia was obtained. The case was oriented as a neurodevelopmental disorder secondary to a genetic alteration and a comorbid Attention Deficit Hyperactivity Disorder (ADHD).
CONCLUSIONS: The clinical peculiarities shared by patients identified with the KDM6B mutation, raises the need to recognize it as a particular entity. The possibility of applying the exome sequencing technique to patients with syndromic phenotype and developmental impairment may clarify its etiopathogenesis. It is highly probable that the complexity of these cases requires an approach by a multidisciplinary team that includes genetics, neurology and psychiatry, among other specialties. The coordinated approach is essential to have a comprehensive vision of the case.
METHODS: A case is presented with its clinical and phenotypic characteristics. The sequence exome analysis was done with the Nimblegen SeqCap EZ MedExome capture kit+mtDNA 47Mb. The psychopathological approach from mental health was carried out through individual and family interviews, the Conner\'s questionnaires, ADHD rating scale, as well as the psychometry.
RESULTS: A frameshift variant in the KDM6B gene related to neurodevelopmental disorders with facial and body dysmorphia was obtained. The case was oriented as a neurodevelopmental disorder secondary to a genetic alteration and a comorbid Attention Deficit Hyperactivity Disorder (ADHD).
CONCLUSIONS: The clinical peculiarities shared by patients identified with the KDM6B mutation, raises the need to recognize it as a particular entity. The possibility of applying the exome sequencing technique to patients with syndromic phenotype and developmental impairment may clarify its etiopathogenesis. It is highly probable that the complexity of these cases requires an approach by a multidisciplinary team that includes genetics, neurology and psychiatry, among other specialties. The coordinated approach is essential to have a comprehensive vision of the case.
摘要：
背景：赖氨酸甲基化基因作为赖氨酸特异性脱甲基酶6B（KDM6B）的改变与多种神经发育障碍有关。直到现在,文献中很少有归因于KDM6B突变的病例.这种差距可能是由于外显子组测序技术仍在常规临床实践中实施的事实。
方法：一例具有临床和表型特征。用NimblegenSeqCapEZMedExome捕获试剂盒+mtDNA47Mb进行序列外显子组分析。心理健康的心理病理学方法是通过个人和家庭访谈进行的，康纳的问卷，多动症评定量表,以及心理测量。
结果：获得了与面部和身体畸形的神经发育障碍相关的KDM6B基因中的移码变体。该病例的定位是继发于遗传改变和共病的注意力缺陷多动障碍（ADHD）的神经发育障碍。
结论：确定有KDM6B突变的患者共有的临床特点，提出了将其识别为特定实体的需要。将外显子组测序技术应用于综合征表型和发育障碍患者的可能性可能会阐明其病因。这些病例的复杂性很可能需要包括遗传学在内的多学科团队的方法，神经学和精神病学,在其他专业中。协调的方法对于全面了解案件至关重要。
方法：一例具有临床和表型特征。用NimblegenSeqCapEZMedExome捕获试剂盒+mtDNA47Mb进行序列外显子组分析。心理健康的心理病理学方法是通过个人和家庭访谈进行的，康纳的问卷，多动症评定量表,以及心理测量。
结果：获得了与面部和身体畸形的神经发育障碍相关的KDM6B基因中的移码变体。该病例的定位是继发于遗传改变和共病的注意力缺陷多动障碍（ADHD）的神经发育障碍。
结论：确定有KDM6B突变的患者共有的临床特点，提出了将其识别为特定实体的需要。将外显子组测序技术应用于综合征表型和发育障碍患者的可能性可能会阐明其病因。这些病例的复杂性很可能需要包括遗传学在内的多学科团队的方法，神经学和精神病学,在其他专业中。协调的方法对于全面了解案件至关重要。
