van Wijngaarden Vivian, de Wilde Hester, Mink van der Molen Dieuwke, Petter Jildo, Stegeman Inge, Gerrits Ellen, Smit Adriana L, van den Boogaard Marie-José
Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Department of Pediatric Otorhinolaryngology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.
Front Pediatr. 2024 Jan 17;12:1315229. doi: 10.3389/fped.2024.1315229. eCollection 2024.
Developmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have been identified. To provide a base for accurate clinical genetic diagnostic work-up for DLD patients, understanding the specific genetic background is crucial. This study aims to give a systematic literature overview of pathogenic variants or chromosomal anomalies causative for DLD in children.
We conducted a systematic search in PubMed and Embase on available literature related to the genetic background of diagnosed DLD in children. Included papers were critically appraised before data extraction. An additional search in OMIM was performed to see if the described DLD genes are associated with a broader clinical spectrum.
The search resulted in 15,842 papers. After assessing eligibility, 47 studies remained, of which 25 studies related to sex chromosome aneuploidies and 15 papers concerned other chromosomal anomalies (SCAs) and/or Copy Number Variants (CNVs), including del15q13.1-13.3 and del16p11.2. The remaining 7 studies displayed a variety of gene variants. 45 (candidate) genes related to language development, including , , , and . After an additional search in the OMIM database, 22 of these genes were associated with a genetic disorder with a broader clinical spectrum, including intellectual disability, epilepsy, and/or autism.
Our study illustrates that DLD can be related to SCAs and specific CNV's. The reported (candidate) genes ( = 45) in the latter category reflect the genetic heterogeneity and support DLD without any comorbidities and syndromic language disorder have an overlapping genetic etiology.
发育性语言障碍（DLD）是一种常见的儿童疾病，对沟通和心理社会发展产生负面影响。越来越多可能与DLD相关的致病变异或染色体异常已被识别。为DLD患者准确的临床基因诊断检查提供依据，了解特定的遗传背景至关重要。本研究旨在对导致儿童DLD的致病变异或染色体异常进行系统的文献综述。
我们在PubMed和Embase中对与儿童确诊DLD的遗传背景相关的现有文献进行了系统检索。在数据提取之前，对纳入的论文进行了严格评估。还在OMIM中进行了额外检索，以查看所描述的DLD基因是否与更广泛的临床谱相关。
检索得到15842篇论文。在评估合格性后，剩余47项研究，其中25项研究与性染色体非整倍体相关，15篇论文涉及其他染色体异常（SCAs）和/或拷贝数变异（CNVs），包括del15q13.1 - 13.3和del16p11.2。其余7项研究展示了各种基因变异。45个（候选）与语言发育相关的基因，包括 ， ， ，和 。在OMIM数据库中进行额外检索后，这些基因中有22个与具有更广泛临床谱的遗传疾病相关，包括智力残疾、癫痫和/或自闭症。
我们的研究表明，DLD可能与SCAs和特定的CNV相关。后一类中报道的（候选）基因（ = 45）反映了遗传异质性，并支持无任何合并症的DLD和综合征性语言障碍具有重叠的遗传病因。
