FLNA公司
遗传学
外显子组测序
法洛四联症
生物
突变
外显子组
外显子
基因
医学
菲拉明
心脏病
病理
细胞骨架
细胞
作者
Samira Kalayinia,Majid Maleki,Mohammad Mahdavi,Nejat Mahdieh
出处
期刊:Labmedicine
[Oxford University Press]
日期:2021-05-04
卷期号:52 (6): 614-618
被引量:4
标识
DOI:10.1093/labmed/lmab018
摘要
Tetralogy of Fallot (TOF) is one of the most common congenital abnormalities that need early intervention. Here, for the first time, we report a nonsyndromic form of TOF caused by a novel variant in the FLNA gene in 2 siblings of an Iranian family.The family underwent a complete workup, including karyotyping, sequencing of 6 common genes in congenital heart diseases (GATA4, NKX2-5, ZIC3, FOXH1, NODAL, and GJA1), array comparative genomic hybridization, multiplex ligation-dependent probe amplification, and whole-exome sequencing. Segregation and in silico analysis were also conducted for the identified variant.A variant, c.3415C>T, in the FLNA gene was found in both affected brothers in this family; this variant was heterozygous in their mother. Bioinformatics tools predicted the variant as a pathogenic one.Many allelic disorders have been reported for FLNA mutations. Mutations in this gene may cause a nonsyndromic congenital form of TOF.
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