生长激素缺乏合并1型神经纤维瘤病1例及其基因分析

A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis

1型神经纤维瘤病(neurofibromatosis Type 1,NF1)是一种常染色体显性遗传病,该病主要临床特征是牛奶咖啡斑、神经纤维瘤、Lisch结节、腋窝和腹股沟雀斑、视神经胶质瘤和骨骼发育异常,NF1基因为其致病基因。中南大学湘雅三医院内分泌科收治了1例以生长迟缓为主诉的11岁患儿,临床诊断为生长激素缺乏合并NF1。基因检测发现该患儿及其母亲NF1基因内含子34有一新的杂合剪切突变c.6579+2T>C(IVS 34+2T>C)。NF1因生长迟缓收入内分泌科较少见,对于临床上表现为身材矮小并伴皮肤牛奶咖啡斑等特征的儿童应考虑NF1的可能,并进行NF1基因检测,这对于明确诊断及提供遗传咨询具有重要意义。

Neurofibromatosis Type 1 （NF1） is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growthretardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579＋2 T〉C （IVS 34＋2 T〉C） of NF1 gene was identifi ed in the patient and his mother. Considering NF1 may present with short stature due to growth hormone defi ciency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.