{"title":"Novel variant related to SATB2-associated syndrome","authors":"Nada Benyahya, Nada Amllal, Siham Chafai Elalaoui, Mustapha El Alloussi, Abdelaziz Sefiani, Jaber Lyahyai","doi":"10.1002/jdn.10379","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2 gene known to play a key role in brain, dental and jaw development. As phenotype could be unspecific and progressive, clinical diagnostic is difficult. Therefore, genetic testing is mandatory to confirm the disease. Herein, we report clinical and molecular data of a 13-year-old girl with psychomotor developmental delay and behavioural problems.</p>\n </section>\n \n <section>\n \n <h3> Methods and results</h3>\n \n <p>Next-generation sequencing detected the novel monoallelic frameshift variant SATB2(NM_001172509.2): c.1135del(p.Gln379Lysfs*34). Currently, this variant is classified as likely pathogenic according to the American College of Medical Genetics. Sanger sequencing was used to validate the presence of the detected variant in the patient and confirm de novo character of this latter.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Through this work, we emphasize the value of next-generation sequencing for a precise molecular diagnosis, an adapted clinical management of patients and an adequate genetic counselling of their families.</p>\n </section>\n </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"1006-1009"},"PeriodicalIF":1.7000,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Developmental Neuroscience","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jdn.10379","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DEVELOPMENTAL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background
SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2 gene known to play a key role in brain, dental and jaw development. As phenotype could be unspecific and progressive, clinical diagnostic is difficult. Therefore, genetic testing is mandatory to confirm the disease. Herein, we report clinical and molecular data of a 13-year-old girl with psychomotor developmental delay and behavioural problems.
Methods and results
Next-generation sequencing detected the novel monoallelic frameshift variant SATB2(NM_001172509.2): c.1135del(p.Gln379Lysfs*34). Currently, this variant is classified as likely pathogenic according to the American College of Medical Genetics. Sanger sequencing was used to validate the presence of the detected variant in the patient and confirm de novo character of this latter.
Conclusion
Through this work, we emphasize the value of next-generation sequencing for a precise molecular diagnosis, an adapted clinical management of patients and an adequate genetic counselling of their families.
背景：SATB2-相关综合征（SAS）又称格拉斯综合征（Glass Syndrome），其特征为智力障碍和/或发育迟缓，伴有语言发育缺失或受限。患者还会出现其他异常，包括颅面畸形（如腭部和牙齿畸形）、行为问题和畸形特征。该病与 SATB2 基因的致病性单倍变异有关，而 SATB2 基因在大脑、牙齿和颌骨发育中起着关键作用。由于表型可能是非特异性和渐进性的，临床诊断十分困难。因此，必须进行基因检测才能确诊。在此，我们报告了一名患有精神运动发育迟缓和行为问题的 13 岁女孩的临床和分子数据：下一代测序检测到了新型单并列换框变异 SATB2(NM_001172509.2)：c.1135del(p.Gln379Lysfs*34)。目前，根据美国医学遗传学会（American College of Medical Genetics）的分类，该变异可能具有致病性。通过桑格测序，我们验证了患者体内存在检测到的变异体，并确认了后者的新特性：通过这项工作，我们强调了下一代测序在精确分子诊断、调整患者临床管理和为患者家属提供充分遗传咨询方面的价值。
期刊介绍：
International Journal of Developmental Neuroscience publishes original research articles and critical review papers on all fundamental and clinical aspects of nervous system development, renewal and regeneration, as well as on the effects of genetic and environmental perturbations of brain development and homeostasis leading to neurodevelopmental disorders and neurological conditions. Studies describing the involvement of stem cells in nervous system maintenance and disease (including brain tumours), stem cell-based approaches for the investigation of neurodegenerative diseases, roles of neuroinflammation in development and disease, and neuroevolution are also encouraged. Investigations using molecular, cellular, physiological, genetic and epigenetic approaches in model systems ranging from simple invertebrates to human iPSC-based 2D and 3D models are encouraged, as are studies using experimental models that provide behavioural or evolutionary insights. The journal also publishes Special Issues dealing with topics at the cutting edge of research edited by Guest Editors appointed by the Editor in Chief. A major aim of the journal is to facilitate the transfer of fundamental studies of nervous system development, maintenance, and disease to clinical applications. The journal thus intends to disseminate valuable information for both biologists and physicians. International Journal of Developmental Neuroscience is owned and supported by The International Society for Developmental Neuroscience (ISDN), an organization of scientists interested in advancing developmental neuroscience research in the broadest sense.
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