Ha Jeong-Ha, Lee Sara, Kim Youngmoon, Moon Ji In, Seo Jongkwon, Jang Ja-Hyun, Cho Eun-Hae, Kim Jung Min, Rhee Byoung Doo, Ko Kyung Soo, Yoo Soo Jin, Won Jong Chul
Department of Internal Medicine, Sanggye Paik Hospital, College of Medicine, Inaja University, Seoul Green Cross Genome, Yongin Cardiovascular and Metabolic Disease Center, College of Medicine, Inje University, Busan Department of Laboratory Medicine, Sanggye Paik Hospital, College of Medicine, Inje University, Seoul, Republic of Korea.
Medicine (Baltimore). 2017 Sep;96(35):e7974. doi: 10.1097/MD.0000000000007974.
Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance.
A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb.
His karyotype was 46 XY. Sanger sequencing of the KAL1 gene revealed no mutations. Diagnostic exome sequencing identified a prokineticin-receptor 2 (PROKR2) gene variant, c.337T > C (p.Tyr113His), previously reported to be a pathogenic mutation; we confirmed the presence of the mutation via Sanger sequencing of the coding exons of PROKR2. His apparently unaffected mother and sister, but not his father, were heterozygous for the PROKR2 Tyr113His mutation.
This work advances our understanding of the role played by PROKR signaling and the mode of inheritance of the gene in patients with KS.
卡尔曼综合征（KS）是一种与嗅觉减退或嗅觉缺失相关的遗传性促性腺激素释放激素缺乏症，具有多种遗传方式。
一名16岁男性未进入青春期，伴有低促性腺激素性性腺功能减退和嗅觉缺失。他的脑部磁共振成像显示嗅球缺失。
他的核型为46 XY。KAL1基因的桑格测序未发现突变。诊断性外显子组测序鉴定出一种前动力蛋白受体2（PROKR2）基因变异，即c.337T > C（p.Tyr113His），此前报道该变异为致病突变；我们通过对PROKR2编码外显子的桑格测序证实了该突变的存在。他明显未受影响的母亲和姐姐是PROKR2 Tyr113His突变的杂合子，但他的父亲不是。
这项工作增进了我们对PROKR信号传导所起作用以及该基因在KS患者中的遗传方式的理解。
