探讨MECP2突变对男性表型表现的遗传作用:一个病例报告。

IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES
Hira Aslam, Seema Balasubramaniam, Paige McDunnah, Meghan Harrison
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引用次数: 0

摘要

目的:探讨男性mecp2相关神经发育障碍的基因型和表型表现。当在患者中发现MECP2基因的变异时,Rett综合征就成为一种可能的诊断。然而,Rett综合征并不能囊括MECP2基因突变的所有表型变异,而且特定的诊断可能变得棘手,特别是在男性人群中,因为该基因的突变历来被认为只影响女性。作者提出了一个罕见的男性病例,先前未发表的遗传变异导致明显的临床表现不符合典型或非典型Rett综合征的标准。方法:访问该患者的机构电子病历,并对信息进行审查。结果:发现该患者的MECP2基因存在母系遗传变异,导致MECP2相关神经发育障碍的一种独特且未被描述的形式,表现为语言退化,随后出现言语失用和运动协调障碍。讨论/结论:文献报道了与MECP2基因突变相关的各种表型,并详细阐述了先前发现的典型和非典型Rett综合征的形式。通过这一病例报告,作者发现了MECP2的致病变异,导致MECP2相关神经发育障碍的罕见表型,这在以前没有被描述过。这应该鼓励临床医生在诊断有发育差异的儿童时考虑得更广泛。这也强调了Rett综合征或MECP2突变经常出现在谱系中,修改诊断标准以反映这一点可能是有益的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report.

Objective: The purpose of this study was to explore the genotypic and phenotypic presentation of males with MECP2-related neurodevelopmental disorders. When variants in the MECP2 gene are discovered in patients, Rett syndrome becomes a possible diagnosis. Rett syndrome, however, does not encapsulate all phenotypic variations in MECP2 gene mutations, and specific diagnosis can become tricky especially in the male population as mutations in the gene were historically thought to affect females only. The authors present a rare case of a male with a previously unpublished genetic variant resulting in a distinct clinical presentation not meeting the criteria for typical or atypical Rett syndrome.

Methods: This patient's institutional electronic medical record was accessed, and information was reviewed.

Results: It was discovered that this patient had a maternally inherited variant in his MECP2 gene, resulting in a unique and previously undescribed form of MECP2-related neurodevelopmental disorder, presenting with language regression followed by speech apraxia and motor discoordination.

Discussion/conclusion: Literature reports on various phenotypes associated with MECP2 gene mutations and elaborates on previously identified forms of typical and atypical Rett syndrome. Through this case report, the authors uncovered a pathogenic variant in MECP2 resulting in a rare phenotype of MECP2-related neurodevelopmental disorder that has not previously been described. This should encourage clinicians to think more broadly when approaching diagnosis of children with developmental differences. This also reinforces that Rett syndrome or MECP2 mutations can often present on a spectrum, and it may be beneficial to modify diagnostic criteria to reflect this.

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来源期刊
CiteScore
3.10
自引率
8.30%
发文量
155
审稿时长
6-12 weeks
期刊介绍: Journal of Developmental & Behavioral Pediatrics (JDBP) is a leading resource for clinicians, teachers, and researchers involved in pediatric healthcare and child development. This important journal covers some of the most challenging issues affecting child development and behavior.
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