Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics.
Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics.
复制标题
中国先天性低促性腺激素性性腺功能减退症患者CHD7罕见变异的分类及临床特征分析
DOI：
10.3389/fgene.2021.770680
复制
发表时间：
2021
影响因子：
3.7
通讯作者：
Wu X
中科院分区：
文献类型：
--
作者：
Sun B;Wang X;Mao J;Zhao Z;Zhang W;Nie M;Wu X
Purpose: CHD7 rare variants can cause congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome. We aimed to summarize the genotype and phenotype characteristics of CHH patients with CHD7 rare variants. Methods: Rare sequencing variants (RSVs) were detected by Sanger sequencing in a series of 327 CHH patients and were interpreted and grouped according to the American College of Medical Genetics and Genomics (ACMG) guideline. Detailed phenotyping and genotype-phenotype correlation were analyzed. Results: The RSV detection rate was 11.01% (36/327) in the CHH patients. We identified 30 RSVs and 19 of them were novel. Following ACMG criteria, three variants were pathogenic (P), 4 were likely pathogenic (LP), 3 were of uncertain significance with paradoxical evidence (US1), and 20 were of uncertain significance without enough evidence (US2). All patients (4/4, 100%) with P or LP variants manifested extragonadal symptoms. Conclusion: Addition of 19 novel CHD7 variants expanded the spectrum of variants, and pathogenic or likely pathogenic RSVs were more likely to cause syndromic CHH. For CHH patients carrying CHD7 RSVs, detailed genotyping and phenotyping can facilitate clinical diagnosis and therapy.
登录
查看更多内容
影响因子：
4.5
作者：
Martin DM
通讯作者：
Martin DM
影响因子：
4.6
作者：
Goncalves, Catarina Ines;Patriarca, Filipa Marina;Lemos, Manuel Carlos
通讯作者：
Lemos, Manuel Carlos
预测蛋白质突变的功能影响：在癌症基因组学中的应用。
影响因子：
14.9
作者：
Reva B;Antipin Y;Sander C
通讯作者：
Sander C
影响因子：
1.4
作者：
Bartels, Cynthia F.;Scacheri, Cheryl;Bale, Sherri
通讯作者：
Bale, Sherri
来自中国大型队列的 CHD7 变异特发性低促性腺激素性功能减退症患者的表型谱
影响因子：
5.8
作者：
Li, Jia-Da;Wu, Jiayu;Men, Meichao
通讯作者：
Men, Meichao