一种新的非综合征常染色体隐性智力障碍综合征的无义突变。
A Novel Nonsense Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome.
机构信息
Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Pediatric Neurology, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
出版信息
Fetal Pediatr Pathol. 2021 Dec;40(6):702-706. doi: 10.1080/15513815.2020.1737991. Epub 2020 Mar 12.
Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C > T/p.Gln749*) leading to a premature stop codon in exon 6 of the (NM_001305424) gene detected by Clinical Exome Sequencing (CES). Clinical features of a patient with a novel nonsense FMN2 mutation is presented. We urge the change in the OMIM nomenclature from Mental Retardation, Autosomal Recessive 47 (MRT47, MIM 616193) to 'Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome'.
智力障碍的遗传原因 常染色体隐性遗传智力障碍综合征（MRT47，MIM 616193）无综合征是最近描述的 FMN2（formin 2 基因）突变。一名智力障碍男孩携带一种新的纯合无义突变（c.2245C>T/p.Gln749*），导致外显子 6 中的提前终止密码子（NM_001305424）基因，通过临床外显子组测序（CES）检测到。介绍了一名具有新型无义 FMN2 突变的患者的临床特征。我们敦促 OMIM 命名法从精神发育迟滞、常染色体隐性 47（MRT47，MIM 616193）更改为“常染色体隐性非综合征性智力障碍综合征”。
Zotero 插件