Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
Agriculture Biotechnology Research Institute, Agricultural Research, Education and Extension Organization (AREEO), Rasht, Iran.
Hum Genomics. 2023 Feb 20;17(1):12. doi: 10.1186/s40246-023-00460-0.
Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene.
Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools.
The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG.
NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.
NF1 基因突变可导致等位基因疾病，其临床表现从 1 型神经纤维瘤病到努南综合征不等。本研究报告了一例 7 岁伊朗女孩，因 NF1 基因突变导致神经纤维瘤病-努南综合征。
采用外显子组测序（WES）进行临床评估和基因检测。使用生物信息学工具进行变异分析和致病性预测。
患者的主要症状是身材矮小和体重增长不足。其他症状包括发育迟缓、学习障碍、语言技能不足、宽额头、眼距过宽和内眦赘皮、低位耳和颈蹼。通过 WES 发现 NF1 基因中的 c.4375-4377delGAA 小缺失。根据 ACMG 分类，该变异被归类为致病性变异。
NF1 变异在患者中可能表现出不同的表型；识别此类变异有助于疾病的治疗管理。WES 被认为是诊断神经纤维瘤病-努南综合征的一种合适的检测方法。
