作者
Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne-Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L Michaud, Guy A Rouleau, Valeria Capra, Zoha Kibar
发表日期
2015/7/1
期刊
Journal of medical genetics
卷号
52
期号
7
页码范围
493-497
出版商
BMJ Publishing Group Ltd
简介
Background
Neural tube defects (NTDs) are very common and severe birth defects that are caused by failure of neural tube closure and that have a complex aetiology. Anencephaly and spina bifida are severe NTDs that affect reproductive fitness and suggest a role for de novo mutations (DNMs) in their aetiology.
Methods
We used whole-exome sequencing in 43 sporadic cases affected with myelomeningocele or anencephaly and their unaffected parents to identify DNMs in their exomes.
Results
We identified 42 coding DNMs in 25 cases, of which 6 were loss of function (LoF) showing a higher rate of LoF DNM in our cohort compared with control cohorts. Notably, we identified two protein-truncating DNMs in two independent cases in SHROOM3, previously associated with NTDs only in animal models. We have demonstrated a significant enrichment of LoF DNMs in this gene in NTDs compared with the gene specific …
学术搜索中的文章
P Lemay, MC Guyot, É Tremblay, A Dionne-Laporte… - Journal of medical genetics, 2015