Pourirahim Maryam, Houshmand Golnaz, Abdolkarimi Leyla, Maleki Majid, Kalayinia Samira
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
BMC Cardiovasc Disord. 2024 Apr 23;24(1):220. doi: 10.1186/s12872-024-03878-z.
Neurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor's development in nerve tissue. Complications of NF1 can include pigmented lesions, skin neurofibromas, and heart problems such as cardiomyopathy. In this study, we performed whole-exome sequencing (WES) on an Iranian patient with NF1 to identify the genetic cause of the disease.
Following clinical assessment, WES was used to identify genetic variants in a family with a son suffering from NF1. No symptomatic manifestations were observed in other family members. In the studied family, in silico and segregation analysis were applied to survey candidate variants.
Clinical manifestations were consistent with arrhythmogenic cardiomyopathy (ACM). WES detected a likely pathogenic heterozygous missense variant, c.3277G > A:p.Val1093Met, in the NF1 gene, confirmed by PCR and Sanger sequencing. The patient's parents and brother had a normal sequence at this locus.
Although there is no cure for NF1, genetic tests, such as WES, can detect at-risk asymptomatic family members. Furthermore, cardiac evaluation could also help these patients before heart disease development.
1型神经纤维瘤病（NF1）是一种遗传性疾病，其特征是神经组织中出现肿瘤。NF1的并发症可能包括色素沉着病变、皮肤神经纤维瘤以及诸如心肌病等心脏问题。在本研究中，我们对一名患有NF1的伊朗患者进行了全外显子组测序（WES），以确定该疾病的遗传病因。
经过临床评估后，使用WES来鉴定一个有儿子患NF1的家庭中的基因变异。其他家庭成员未观察到任何症状表现。在该研究家庭中，应用计算机分析和分离分析来调查候选变异。
临床表现与致心律失常性心肌病（ACM）一致。WES在NF1基因中检测到一个可能致病的杂合错义变异，c.3277G＞A:p.Val1093Met，经PCR和桑格测序证实。患者的父母和兄弟在该位点的序列正常。
虽然NF1无法治愈，但基因检测，如WES，可以检测出有风险的无症状家庭成员。此外，心脏评估也可以在这些患者心脏病发展之前提供帮助。
