Child and Adolescent Psychiatry and Psychology, Department of Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Children and Adolescent Mental Health Research Group (Consolidated group 2017 SGR 964), Institut de Recerca Sant Joan de Déu, Spain.
Child and Adolescent Psychiatry and Psychology, Department of Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Rev Psiquiatr Salud Ment (Engl Ed). 2022 Apr-Jun;15(2):88-93. doi: 10.1016/j.rpsmen.2022.06.005.
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.
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.
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).
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.
赖氨酸甲基化基因的改变，如赖氨酸特异性去甲基化酶 6B（KDM6B），与多种神经发育障碍有关。到目前为止，文献中只有少数病例归因于 KDM6B 突变。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。
介绍了一个病例及其临床和表型特征。采用 Nimblegen SeqCap EZ MedExome 捕获试剂盒+mtDNA 47Mb 进行外显子组序列分析。通过个体和家庭访谈、康纳问卷、ADHD 评定量表以及心理测量进行心理健康方面的精神病理学方法。
在 KDM6B 基因中获得了与神经发育障碍相关的框移变异，伴有面部和身体畸形。该病例被定位为继发于遗传改变和共患注意缺陷多动障碍（ADHD）的神经发育障碍。
具有 KDM6B 突变患者的临床特征表明有必要将其视为一种特殊实体。对具有综合征表型和发育障碍的患者应用外显子组测序技术可能有助于阐明其病因发病机制。这些病例的复杂性很可能需要一个多学科团队的方法，包括遗传学、神经病学和精神病学等专业。协调的方法对于全面了解病例至关重要。
