一名患有自闭症谱系障碍和强迫症患者的基因突变：病例报告。
Mutation in a Patient with Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Case Report.
作者信息
Sabetfakhri Niki P, Guter Stephen J, Reyes Pinzon Sandra H, Ajilore Olusola A, Cook Edwin H, Najjar Fedra
机构信息
Department of Psychiatry, College of Medicine, University of Illinois Chicago, Chicago, IL, USA.
出版信息
J Mood Anxiety Disord. 2025 Mar 6;10:100114. doi: 10.1016/j.xjmad.2025.100114. eCollection 2025 Jun.
BACKGROUND
The gene encodes a lysine histone demethylase that is essential in epigenetic regulation and human development. Homozygous and compound heterozygous variants of have been associated with a distinct syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. However, phenotypic presentations associated with heterozygous (HET) protein-truncating variants (PTVs) have been inconsistent, ranging from moderate to severe autism spectrum disorder (ASD) and intellectual disability (ID), to some individuals being unaffected with ASD or ID.
CASE PRESENTATION
We report a HET PTV (NM_006618.5 c.1708 C>T; p.R570X) in in an 18-year-old Caucasian female patient, who presented with ASD, and then developed severe obsessive-compulsive disorder (OCD) and leading to depression and emotion dysregulation.
CONCLUSIONS
This case suggests a potential role for HET PTVs in the gene in OCD pathogenesis and marks the first report of co-occurring ASD and OCD associated with a variant.
背景
该基因编码一种赖氨酸组蛋白去甲基化酶，在表观遗传调控和人类发育中至关重要。该基因的纯合和复合杂合变异与一种以发育迟缓、智力残疾和畸形特征为特征的独特综合征有关。然而，与杂合（HET）蛋白截短变异（PTV）相关的表型表现并不一致，范围从中度至重度自闭症谱系障碍（ASD）和智力残疾（ID），到一些个体未受ASD或ID影响。
病例报告
我们报告一名18岁白种女性患者的该基因存在杂合蛋白截短变异（NM_006618.5 c.1708 C>T；p.R570X），该患者患有ASD，随后发展为重度强迫症（OCD），并导致抑郁和情绪失调。
结论
该病例提示该基因中的杂合蛋白截短变异在强迫症发病机制中可能起作用，并首次报道了与该基因变异相关的ASD和OCD共病情况。
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