A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-05-20 DOI:10.1159/000546429

Ceren Alavanda, Kısmet Çıkı

{"title":"A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review.","authors":"Ceren Alavanda, Kısmet Çıkı","doi":"10.1159/000546429","DOIUrl":null,"url":null,"abstract":"Introduction: X-linked intellectual disability (XLID) is a highly heterogeneous disease. Apart from Fragile X, other diseases that cause XLID are quite rare. The DLG3 gene variants cause XLID90.Case presentation: This study presents 2 patients diagnosed with XLID90 after identifying a novel variant in the DLG3 gene through whole exome sequencing analysis. Both patients had autism spectrum disorder, intellectual disability, and dysmorphism. Additionally, an arachnoid cyst, which has not been previously reported in XLID90, was also detected in the patients. XLID90 has neither specific clinical findings nor dysmorphic features. Therefore, a detailed literature review is essential for clearly elucidating the phenotype. Here, one hundred and two XLID90 cases from 18 publications reporting pathogenic variants in the DLG3 gene were reviewed to investigate the detailed clinical findings among these patients. The literature review has shown that ID is more frequently observed in patients with truncating variants, while seizures are more commonly seen in patients with non-truncating variants.Conclusion: This study will provide homogeneous healthcare to patients and allow for appropriate genetic counseling.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-7"},"PeriodicalIF":0.9000,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180902/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000546429","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: X-linked intellectual disability (XLID) is a highly heterogeneous disease. Apart from Fragile X, other diseases that cause XLID are quite rare. The DLG3 gene variants cause XLID90.

Case presentation: This study presents 2 patients diagnosed with XLID90 after identifying a novel variant in the DLG3 gene through whole exome sequencing analysis. Both patients had autism spectrum disorder, intellectual disability, and dysmorphism. Additionally, an arachnoid cyst, which has not been previously reported in XLID90, was also detected in the patients. XLID90 has neither specific clinical findings nor dysmorphic features. Therefore, a detailed literature review is essential for clearly elucidating the phenotype. Here, one hundred and two XLID90 cases from 18 publications reporting pathogenic variants in the DLG3 gene were reviewed to investigate the detailed clinical findings among these patients. The literature review has shown that ID is more frequently observed in patients with truncating variants, while seizures are more commonly seen in patients with non-truncating variants.

Conclusion: This study will provide homogeneous healthcare to patients and allow for appropriate genetic counseling.

查看原文本刊更多论文

一个新家族的x连锁智力残疾90：一个新的DLG3变异的病例报告和文献复习。

简介：x连锁智力残疾（XLID）是一种高度异质性的疾病。除了脆性X染色体外，导致XLID的其他疾病非常罕见。DLG3基因变异导致XLID90。病例介绍：本研究报告了2例诊断为XLID90的患者，他们通过全外显子组测序分析发现了DLG3基因的一个新的变异。两名患者都患有自闭症谱系障碍、智力残疾和畸形。此外，在XLID90中未报道的蛛网膜囊肿也在患者中检测到。XLID90没有特殊的临床表现，也没有畸形特征。因此，详细的文献回顾是必要的，以清楚地阐明表型。本文回顾了18篇报道DLG3基因致病性变异的出版物中的102例XLID90病例，以调查这些患者的详细临床表现。文献综述表明，截断型变异患者更常观察到ID，而非截断型变异患者更常观察到癫痫发作。结论：本研究将为患者提供均匀的医疗保健，并允许适当的遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.