Article
Medicine, General & Internal
Diana Miclea, Adriana Szucs, Andreea Mirea, Delia-Maria Stefan, Florina Nazarie, Simona Bucerzan, Cecilia Lazea, Alina Grama, Tudor Lucian Pop, Marius Farcas, Gabriela Zaharie, Melinda Matyas, Monica Mager, Mihaela Vintan, Radu Popp, Camelia Alkhzouz
Summary: This study observed the frequency of CNVs in patients with GDD/ID, finding that MLPA technique is an effective alternative in cases with specific clinical diagnosis.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Genetics & Heredity
Viraj Patel, Wei Cui, Jan M. Cobben
Summary: We present a case of a boy with SHORT syndrome characterized by microcephaly and severe developmental delay caused by a de novo PIK3R1 gene variant. Our findings coincide with a similar case from Brazil and other reported cases, all of which have variants in the iSH2 domain of the PIK3R1 gene. These findings suggest that iSH2 domain variants in PIK3R1 may be associated with a distinct clinical presentation of SHORT syndrome characterized by microcephaly and intellectual/developmental disabilities. The underlying pathogenic mechanism of this association remains unknown.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Baiyu Chen, Yalan Zhan, Miriam Kessi, Shimeng Chen, Juan Xiong, Xiaolu Deng, Lifen Yang, Jing Peng, Fei Yin, Fang He
Summary: The study aimed to identify differential metabolites in urine organic acids for the exploration of GDD/ID etiology and pathogenesis. Through metabolomics research methods, significant altered metabolites could potentially serve as diagnostic biomarkers for GDD/ID.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Pediatrics
Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked
Summary: The role of lysine methyltransferases and demethylases in chromatin modification regulation is well-established. This study focuses on the association between deleterious variants in the KMT5B gene and developmental disorders such as global developmental delay and intellectual disability. Three unrelated patients with these disorders were found to have distinct de novo mutations in the KMT5B gene. The findings suggest that KMT5B should be considered as a potential gene for the differential diagnosis of neurodevelopmental disorders accompanied by macrocephaly and overgrowth.
FRONTIERS IN PEDIATRICS
(2022)
Article
Environmental Sciences
Tongchao Zhang, Xiaolin Yin, Hui Chen, Yufei Li, Jiaqi Chen, Xiaorong Yang
Summary: Lead exposure is an important environmental pollutant that can cause idiopathic developmental intellectual disability (IDII). This study assessed the global burden of lead exposure-related IDII using the Global Burden of Disease (GBD) study. The findings showed that the burden of IDII was highest in children and adolescents, as well as in low- and middle-income countries. While most regions and countries experienced a downward trend, 11 countries showed an upward trend.
SCIENCE OF THE TOTAL ENVIRONMENT
(2022)
Article
Pediatrics
Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp, Monica Mager, Maria Puiu, Cristian Zimbru, Adela Chirita-Emandi, Camelia Alkhzouz
Summary: In this study, chromosomal microarray analysis was used to determine clinically relevant copy number variants in patients with global developmental delay/intellectual disability. The results showed the detection of pathogenic and variants of unknown significance in the patients. There was a high proportion of recurrent copy number variants among the pathogenic findings.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Pediatrics
Wen Zhang, Dong Li, Nan Pang, Li Jiang, Baomin Li, Fanghua Ye, Fang He, Shimeng Chen, Fangyun Liu, Jing Peng, Jinghua Yin, Fei Yin
Summary: This study investigated the applicability of fragile X syndrome (FXS) testing in unexplained ID/GDD individuals with negative or absent genetic testing, highlighting the utility of FXS testing in identifying the etiology of ID/GDD individuals.
FRONTIERS IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Yu Sun, Jing Peng, Desheng Liang, Xiantao Ye, Na Xu, Linlin Chen, Dan Yan, Huiwen Zhang, Bing Xiao, Wenjuan Qiu, Yiping Shen, Nan Pang, Yingdi Liu, Chen Liang, Zailong Qin, Jingsi Luo, Fei Chen, Jingmin Wang, Zhixin Zhang, Haiyan Wei, Juan Du, Huifang Yan, Ruoyu Duan, Junyu Wang, Yu Zhang, Shixiu Liao, Kun Sun, Lingqian Wu, Yongguo Yu
Summary: Genome sequencing has shown high diagnostic yield and clinical utility in patients with global developmental delay/intellectual disability, detecting various types and sizes of variants.
Article
Clinical Neurology
Jorge Diogo Da Silva, Marta Daniela Costa, Bruno Almeida, Fatima Lopes, Patricia Maciel, Andreia Teixeira-Castro
Summary: This study reports a patient with GNB1 encephalopathy, in whom a novel pathogenic variant was identified through genetic testing. The detected variant may disrupt the function of the GNB1 protein, leading to abnormal signal transduction pathways and disease manifestation.
FRONTIERS IN NEUROLOGY
(2021)
Article
Genetics & Heredity
Matthew A. Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gasdal Karstensen, Kwame Anyane-Yeboa, Jun Liao, Nan Jiang, Alison May, Edwin Guzman, Manuela Morleo, Stefano D'Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, Shane McKee, Jinfon Ong, Hana Zibdeh-Lough, Frederic Tran-Mau-Them, Anna Gerasimenko, Delphine Heron, Boris Keren, Henri Margot, Jean-Madeleine de Sainte Agathe, Lydie Burglen, Thomas Voets, Joris Vriens, A. Micheil Innes, David A. Dyment
Summary: This report presents the clinical and molecular features of seven individuals with the recurrent p.(Val837Met) variant in the TRPM3 gene, showing global developmental delay, congenital hypotonia, and seizures among common clinical features. The study expands the number of affected individuals to 16 and suggests that TRPM3 pathogenic variation may be considered in individuals with global developmental delays and moderate-severe intellectual disabilities with or without childhood-onset epilepsy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
Summary: Woodhouse-Sakati syndrome (WSS) is a rare multi-system autosomal recessive disease characterized by homozygous mutation of the DCAF17 gene. A family with a novel DCAF17 gene mutation was identified in China, showing symptoms of diabetes, hypogonadism, deafness, and intellectual disability. The mutation may lead to pancreatic beta cell dysfunction and contribute to the development of diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Yuanyuan Wu, Fang Liu, Ruihua Wan, Baoquan Jiao
Summary: This study identified a novel pathogenic SETD2 variant causing atypical Luscan-Lumish syndrome and reviewed all the published SETD2 mutations and corresponding symptoms, comprehensively understanding the phenotypes and genotypes of SETD2 mutations. The findings provide new evidence for further genetic counseling.
FRONTIERS IN GENETICS
(2023)
Review
Pediatrics
Mary Hsin-Ju Ko, Hui-Ju Chen
Summary: Unexplained global developmental delay (GDD) and intellectual disabilities (ID) affect nearly 2% of the pediatric population. Advances in genome sequencing have accelerated the search for an etiologic diagnosis, with exome sequencing (ES) and genome sequencing (GS) outperforming other techniques. Singleton or trio ES is recommended as the more cost-effective option for initial investigation, based on recent evidence and a proposed evaluation algorithm.
Article
Pediatrics
Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Xingkun Yang
Summary: Mutations in the FRMD4A gene are associated with intellectual development; the gene should be included in the analysis for patients with unexplained global developmental delay.
FRONTIERS IN PEDIATRICS
(2021)
Article
Clinical Neurology
Amira T. Masri, Liyana Oweis, Majd Ali, Hanan Hamamy
Summary: This study reports the diagnostic yield of clinical singleton whole exome sequencing (WES) among Jordanian children with global developmental delay/intellectual disability (GDD/ID), and discusses the identified genetic disorders and challenges encountered.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)