KDM6B突变:表型和临床特征- 1例报告

IF 5.2 3区 医学 Q1 PSYCHIATRY
Inmaculada Insa Pineda , Cristina Luz Gómez González
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引用次数: 2

摘要

赖氨酸甲基化基因作为赖氨酸特异性去甲基化酶6B (KDM6B)的改变与多种神经发育障碍有关。到目前为止,文献中很少有病例归因于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。材料与方法报告1例患者的临床和表型特征。序列外显子组分析使用Nimblegen SeqCap EZ MedExome捕获试剂盒+ mtDNA 47Mb进行。心理健康的精神病理学方法通过个人和家庭访谈、Conner's问卷、ADHD评定量表以及心理测量法进行。结果获得了一个与面部和身体畸形相关的神经发育障碍KDM6B基因移码变异。该病例被定位为继发于遗传改变的神经发育障碍和共病的注意缺陷多动障碍(ADHD)。结论KDM6B突变患者的临床特征表明,有必要将其视为一种特殊的实体。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阐明其发病机制。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,以及其他专业。协调一致的方法对于全面了解情况至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The KDM6B mutation: Phenotype and clinical characteristics—Report of a case

Introduction

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.

Material and 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.

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来源期刊
自引率
3.30%
发文量
58
期刊介绍: The Spanish Journal of Psychiatry and Mental Health (SJPMH), incorporated into ISSN 1888-9891, is the official scientific publication of the Spanish Society of Psychiatry and Mental Health. The journal focuses on studying mental illnesses, their pathological processes, and their psychosocial consequences, and aims to disseminate scientific advances in all areas related to mental health and illness. SJPMH accepts unpublished works on psychiatry and mental health, including their medical and social implications. The journal provides space for research in the biological, clinical, and psychosocial fields. Manuscripts undergo peer-review by external reviewers before being accepted for publication. SJPMH is indexed in Index Medicus/Medline, IBECS, Social Sciences Citation Index Journal Citation Reports/Social Sciences Edition, and Current Contents/Social and Behavioral Sciences.
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