a Andrology Department of Integrative Medicine , Zhongda Hospital, School of Medicine, Southeast University , Nanjing , China.
b Department of Reproductive Medicine , Xiamen Maternity and Child Care Hospital , Xiamen , Fujian , China.
Syst Biol Reprod Med. 2018 Jun;64(3):202-206. doi: 10.1080/19396368.2018.1458919. Epub 2018 Apr 15.
Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated. The mutation is not present in the dbSNP, 1000 Genome, ExAC, and gnomAD databases. The discovery of this new mutation in the FGFR1 gene enriches the spectrum of FGFR1 mutations in patients with KS.
FGFR1: fibroblast growth factor receptor 1; HH: hypogonadotropic hypogonadism; KS: Kallmann syndrome; MRI: magnetic resonance imaging; WES: whole-exome sequencing.
卡尔曼综合征（KS）是一种罕见的临床和遗传异质性疾病，可为家族性或散发性。KS 的已知遗传模式有三种：X 连锁隐性遗传、常染色体显性遗传和罕见的常染色体隐性遗传。在此，我们报告了一个具有 KS 常染色体显性遗传的同胞家系，并通过全外显子组测序（WES）在 FGFR1 基因中鉴定出一个新的杂合移码突变 c.299_300insCCGCAGACTCCGGCCTCTATGC（p.C101Rfs*17）。该突变和发病情况呈共分离。该突变不存在于 dbSNP、1000 基因组、ExAC 和 gnomAD 数据库中。在 FGFR1 基因中发现这种新突变丰富了 KS 患者 FGFR1 突变谱。
FGFR1：成纤维细胞生长因子受体 1；HH：低促性腺激素性性腺功能减退症；KS：卡尔曼综合征；MRI：磁共振成像；WES：全外显子组测序。
