Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches.

ABSTRACT:

Background

Kallmann syndrome (KS) is a hypogonadotropic hypogonadism accompanied by anosmia or hyposmia. It is associated with the low secretion of gonadotropins which can lead to other abnormal endocrine metabolism disorders such as diabetes. Through genetic and molecular biological methods, more than 10 KS pathogenic genes have been found.

Aim

To identify the existing mutation sites of KS with diabetes and reveal the relationship between genotype and phenotype.

Methods

We studied KS pathogenesis through high-throughput exome sequencing on four diabetes' patients with KS for screening the potential pathogenic sites and exploring the genotype-phenotype correlation. Clinical data and peripheral blood samples were collected from the patients. White blood cells were sepa

SUBMITTER: Sun SS 

PROVIDER: S-EPMC8696644 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature