New Insight into the Genotype-Phenotype Correlation of <i>PRPH2</i>-Related Diseases Based on a Large Chinese Cohort and Literature Review by Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

“…All variants were classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. …”
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Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders by María Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal

“…Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. …”
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Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome by Qian Zhang, Qian Zhang, Shuya Yang, Xin Chen, Xin Chen, Hongdan Wang, Hongdan Wang, Keyan Li, Chaonan Zhang, Shixiu Liao, Shixiu Liao, Litao Qin, Litao Qin, Qiaofang Hou, Qiaofang Hou, Qiaofang Hou

“…The two variants were predicted to be pathogenic by in silico tools and were classified as pathogenic/likely pathogenic variants according to the American College of Medical Genetics and Genomics guideline. cDNA TA cloning analysis showed that both splice site variants caused a deletion of exon 5. …”
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HLA-based banking of induced pluripotent stem cells in Saudi Arabia by Maryam Alowaysi, Robert Lehmann, Mohammad Al-Shehri, Moayad Baadhaim, Hajar Alzahrani, Doaa Aboalola, Asima Zia, Dalal Malibari, Mustafa Daghestani, Khaled Alghamdi, Ali Haneef, Dunia Jawdat, Fahad Hakami, David Gomez-Cabrero, Jesper Tegner, Khaled Alsayegh

“…The standards set by the American College of Medical Genetics and Genomics (ACMG) were used to determine the clinical significance of identified variants. …”
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Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy by Bin Mao, Bin Mao, Na Lin, Na Lin, Danhua Guo, Danhua Guo, Deqin He, Deqin He, Huili Xue, Huili Xue, Lingji Chen, Lingji Chen, Qianqian He, Qianqian He, Min Zhang, Min Zhang, Meihuan Chen, Meihuan Chen, Hailong Huang, Hailong Huang, Liangpu Xu, Liangpu Xu

“…A total of six variants (c.1408T&gt;G in ALDH7A1, c.1994_1997del in CDKL5, c.794G&gt;A in QARS1, c.2453C&gt;T in GRIN2A, and c.217dup and c.863+995_998+1480del in MFSD8) have not yet been reported to be associated with diseases and were all evaluated to be pathogenic or likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines.MethodsBased on the molecular findings, we have associated the intragenic deletion in MFSD8 with the mutagenesis mechanism of Alu-mediated genomic rearrangements for the first time and provided genetic counseling, medical suggestions, and prenatal diagnosis for the families. …”
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CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis by Angélica Martínez-Hernández, Elvia C. Mendoza-Caamal, Namibia G. Mendiola-Vidal, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Juan Luis Jiménez-Ruiz, Tulia Monge-Cazares, Humberto García-Ortiz, Cecilia Contreras- Cubas, Federico Centeno-Cruz, Carmen Alaez-Verson, Soraya Ortega-Torres, Adriana del C. Luna-Castañeda, Vicente Baca, José Luis Lezana, Lorena Orozco

“…The use of different in silico software and American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) criteria allowed us to assume that all of these PVs were pathogenic, causing a severe phenotype. …”
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Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations... by Yingzi Liu, Xuewen Xiao, Hui Liu, Xinxin Liao, Xinxin Liao, Xinxin Liao, Xinxin Liao, Xinxin Liao, Yafang Zhou, Yafang Zhou, Yafang Zhou, Yafang Zhou, Yafang Zhou, Ling Weng, Ling Weng, Ling Weng, Ling Weng, Ling Weng, Lu Zhou, Xixi Liu, Xiang-yun Bi, Tianyan Xu, Yuan Zhu, Qijie Yang, Sizhe Zhang, Xiaoli Hao, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Junling Wang, Junling Wang, Junling Wang, Junling Wang, Junling Wang, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao, Lu Shen, Lu Shen, Lu Shen, Lu Shen, Lu Shen, Lu Shen

“…In this study, we collected clinical data from patients carrying APP mutations defined as pathogenic/likely pathogenic according to the American college of medical genetics and genomics (ACMG) guidelines. …”
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Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7 by Cheng Huang, Haiyan Luo, Baitao Zeng, Chuanxin Feng, Jia Chen, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu

“…In light of the updated American College of Medical Genetic and Genomics (ACMG) criterion, the variant of exon3_exon4del and c.1159C&gt;T were both classified as likely pathogenic (PSV1+PM6), while c1309C&gt;T was identified as pathogenic (PVS1+PS2_Moderate+PM2). …”
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