Wang X L, Wang D D, Gu J Q, Zhang N, Shan Z Y
Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China
Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
Genet Mol Res. 2014 Nov 11;13(4):9472-6. doi: 10.4238/2014.November.11.12.
Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skeletal malformations. Coding regions of 12 genes that have been implicated in nIHH were analyzed by direct sequencing. Mutation analysis revealed a novel mutation at exon 10 of the FGFR1 gene, 1422 C>G, and a C→G transition in codon 476, which resulted in the replacement of aspartic acid with glutamic acid. The patient's family members did not possess this mutation. We briefly reviewed FGFR1 variants found in Chinese subjects. These results indicate that the mutation in FGFR1 is a cause of nIHH, which is associated with specific non-reproductive phenotypes.
据报道，成纤维细胞生长因子受体1基因（FGFR1）突变见于卡尔曼综合征和嗅觉正常的特发性低促性腺激素性性腺功能减退（nIHH）患者。在此，我们报告1例携带FGFR1新突变的nIHH患者。该患者为19岁女性，表现出nIHH的表型，包括原发性闭经、唇腭裂、混合性听力障碍和骨骼畸形。通过直接测序分析了12个与nIHH相关基因的编码区。突变分析显示FGFR1基因第10外显子存在一个新突变，即1422 C>G，密码子476发生C→G转换，导致天冬氨酸被谷氨酸替代。患者家庭成员无此突变。我们简要回顾了在中国人群中发现的FGFR1变异体。这些结果表明，FGFR1突变是nIHH的一个病因，且与特定的非生殖表型相关。
