Identify Microcephaly Cause with SNW1 Gene Mutation
Executive Brief
- The News: Mutations in SNW1 cause neurodevelopment disorders with microcephaly
- Clinical Win: Identifying SNW1 mutations enables targeted diagnosis and treatment
- Target Specialty: Pediatric neurologists managing microcephaly patients
Key Data at a Glance
Condition: Neurodevelopment disorders with microcephaly
Cause: Mutations in the SNW1 gene
Gene: SNW1
Gene Function: Spliceosomal
Research Focus: Genetics of developmental and neuropsychiatric disorders
Research Institution: Shanghai Jiao Tong University, among others
Identify Microcephaly Cause with SNW1 Gene Mutation
Lei Ji,1,2 Jin Yan,3 Nicole A. Losurdo,4 Hua Wang,5,6 Liangjie Liu,1,2 Keyi Li,1,2 Zhen Liu,7,8 Zhenming Guo,3 Jing Xu,3 Adriana Bibo,4 Decheng Ren,1,2 Ke Yang,1,2 Yingying Luo,1,2 Fengping Yang,1,2 Gui Wang,3 Zhenglong Xiang,3 Yuan Wang,3 Huaizhe Zhan,3 Hu Pan,7,8 Juanli Hu,7,8 Jianmin Zhong,9 Rami Abou Jamra,10 Pia Zacher,11 Luciana Musante,12 Flavio Faletra,13,14 Paola Costa,12 Caterina Zanus,12 Nathalie Couque,15,16 Lyse Ruaud,15,16 Anna M. Cueto-González,17,18 Hector San Nicolas Fernández,17,18 Eduardo Tizzano,17,18 Nuria Martinez Gil,17,18 Xiaorong Liu,19 Weiping Liao,19 Layal Abi Farraj,20 Alden Y. Huang,20,21 Liying Zhang,20 Aparna Murali,21 Esther Schmuel,22 Christina S. Han,21 Kayla King,23,24 Weiyue Gu,25 Pengchao Wang,25 Kai Li,26 Nichole Link,4 Guang He,1,2,8 Shan Bian,3,8,27 and Xiao Mao7,8
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and
2Shanghai Institute of Medical Genetics, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China.
3Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.
4Department of Neurobiology, The University of Utah, Salt Lake City, Utah, USA.
5The Affiliated Children’s Hospital of Xiangya School of Medicine, Central South University, Changsha, China.
6Clinical Medical Research Center for Hereditary Birth Defects and Rare Diseases in Hunan Province, Changsha, China.
7Department of Medical Genetics and
8National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
9Department of Neurology, Jiangxi Provincial Children’s Hospital, Nanchang, China.
10Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
11Kleinwachau Epilepsy Center, Radeberg, Germany.
12Institute for Maternal and Child Health, IRCCS “Burlo Garofolo,” Trieste, Italy.
13Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.
14Department of Medicine, University of Udine, Udine, ltaly.
15Department of Genetics, AP-HP–Robert Debré University Hospital, Paris, France.
16Laboratoire de Biologie Médicale Multisite SeqOIA, Sorbonne University, Paris, France.
17Department of Clinical and Molecular Genetics, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain.
18Medicine Genetics Group, Vall Hebron Research Institute, Vall d’Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.
19Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
Clinical Perspective — Dr. Shruti Pandey, Hematology
Workflow: As I see patients with neurodevelopmental disorders, I'm now more likely to consider mutations in the SNW1 gene, given its link to microcephaly. The study by Lei Ji et al. highlights the importance of genetic testing in these cases. I'd make sure to order the necessary tests to identify potential SNW1 mutations.
Economics: The article doesn't address cost directly, but considering the potential for targeted genetic testing, I'd expect costs to be comparable to other genetic tests. The cost of sequencing and analysis will likely be a factor in how I approach diagnosis and treatment planning for patients with suspected SNW1 mutations.
Patient Outcomes: Patients with SNW1 mutations are at risk of developing neurodevelopmental disorders with microcephaly, which can have significant impacts on their quality of life. By identifying these mutations, I can provide more accurate diagnoses and develop targeted treatment plans to improve patient outcomes, potentially reducing the risk of associated complications.
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