Łaczmańska Izabela, Stembalska Agnieszka, Złocińska Magdalena, Kozłowska Joanna, Skiba Paweł, Pesz Karolina, Ślęzak Ryszard, Śmigiel Robert, Jakubiak Aleksandra, Misiak Błażej, Sąsiadek Maria M
Department of Genetics, Wroclaw Medical University, Poland.
Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Poland.
Adv Clin Exp Med. 2020 Jan;29(1):101-106. doi: 10.17219/acem/112609.
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by the presence of various symptoms related to deficits in communication and social interactions as well as stereotyped and repetitive behavior. Increasing evidence indicates the contribution of genetic factors in the etiology of ASDs. Genetic diagnosis in ASDs is based on identifying chromosome aberrations, microaberrations and point mutations in specific genes. One of the diagnostic tools is multiplex ligase-dependent probe amplification (MLPA) with a set of probes dedicated to ASDs (SALSA MLPA P343 Autism-1; MRC-Holland BV, Amsterdam, the Netherlands) targeting the genes located in the regions 15q11-q13, 16p11 and the SHANK3 gene in the 22q13 region.
Our study included 240 patients referred to the clinical genetics unit because of ASDs and/or developmental delay and/or an intellectual disability. Before genetic testing, the patients underwent a comprehensive medical work-up.
Multiplex ligase-dependent probe amplification was performed in 256 DNA samples from 240 probands and 16 family members using the SALSA MLPA P343 Autism-1 probe mix (MRC-Holland BV) according to the manufacturer's protocol.
We obtained 234 normal results and 22 abnormal results (15 probands and 7 abnormal results for probands' parents or siblings). We diagnosed 1 16p11 microdeletion syndrome and 1 16p11 microduplication syndrome. We also found 3 deletions and 1 duplication in 15q13 region including 2 or 3 genes and 9 single probe alterations in the regions examined (1 duplication and 7 deletions).
Due to the low costs, MLPA test may be a good tool for the genetic screening of ASD patients.
自闭症谱系障碍（ASD）是一组异质性神经发育障碍，其特征是存在与沟通和社交互动缺陷以及刻板重复行为相关的各种症状。越来越多的证据表明遗传因素在ASD病因中起作用。ASD的基因诊断基于识别特定基因中的染色体畸变、微畸变和点突变。诊断工具之一是多重连接依赖探针扩增（MLPA），使用一组专门针对ASD的探针（SALSA MLPA P343 Autism-1；荷兰阿姆斯特丹MRC-Holland BV），靶向位于15q11-q13、16p11区域以及22q13区域的SHANK3基因。
我们的研究纳入了240名因ASD和/或发育迟缓及/或智力残疾而转诊至临床遗传学科室的患者。在进行基因检测之前，患者接受了全面的医学检查。
根据制造商的方案，使用SALSA MLPA P343 Autism-1探针混合物（MRC-Holland BV）对来自240名先证者和16名家庭成员的256份DNA样本进行多重连接依赖探针扩增。
我们获得了234个正常结果和22个异常结果（15名先证者以及先证者父母或兄弟姐妹的7个异常结果）。我们诊断出1例16p11微缺失综合征和1例16p11微重复综合征。我们还在15q13区域发现了3处缺失和1处重复，涉及2或3个基因，以及在所检查区域发现了9处单探针改变（1处重复和7处缺失）。
由于成本较低，MLPA检测可能是ASD患者基因筛查的良好工具。
