Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University, Shanghai, China.
Cancer Center, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China.
Mol Genet Genomic Med. 2021 May;9(5):e1643. doi: 10.1002/mgg3.1643. Epub 2021 Mar 25.
Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by NF1 gene mutation. Its clinical manifestations include multiple cafe´-au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning disabilities, and an increased risk of malignancy.
Here, we reported a Chinese patient bearing with a novel NF1 mutation (c.2064delGGATGCAGCGG/p.Gly672AsnfsTer24) and complaining mainly about bone phenotype. Functional studies found that this novel mutation caused the damage of NF1 mRNA and protein levels, and lost the inhibition on Ras/Erk signaling.
A novel mutation in NF1 gene was identified and in vitro functional studies were performed, which provided a potential molecular mechanism to explain the bone maldevelopment of patients with neurofibromatosis type 1.
神经纤维瘤病 1 型是一种常染色体显性遗传疾病，由 NF1 基因突变引起。其临床表现包括多发性咖啡牛奶斑（CAL）、皮褶雀斑、神经纤维瘤、骨发育不良、学习障碍以及恶性肿瘤风险增加。
在这里，我们报告了一例中国患者携带一种新型 NF1 突变（c.2064delGGATGCAGCGG/p.Gly672AsnfsTer24），主要表现为骨骼表型。功能研究发现，这种新型突变导致 NF1 mRNA 和蛋白水平受损，并丧失对 Ras/Erk 信号的抑制作用。
鉴定了 NF1 基因的一种新型突变，并进行了体外功能研究，为解释神经纤维瘤病 1 型患者的骨骼发育不良提供了潜在的分子机制。
