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

ARTICLE HIGHLIGHTS

Research background

Kallmann syndrome is a hypogonadotropic hypogonadism accompanied by anosmia or hyposmia. Through genetic and molecular biological methods, more than 10 KS pathogenic genes have been found.

Research motivation

The diagnosis of KS is challenging, especially in early puberty, and the clinical manifestations reflect physical delays in development and puberty.

Research objectives

To identify the existing mutation sites of Kallmann syndrome with Diabetes and reveal the relationship between genotype and phenotype.

Research 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. The results obtained were analyzed.

Research results

Sequencing revealed mutations in the KLB p.T313M, ANOS1 p.C172F,and IGSF10 gene (p.Lys1819Arg and p.Arg1035Thr) at different sites, which may have been associated with disease onset.

Research conclusions

The diagnosis of KS is challenging. Timely diagnosis and treatment can induce puberty, thereby improving sexual, bone, metabolic and mental health.

Research perspectives

Exon sequencing can be used for studying various diseases. It is useful as a diagnostic tool owing to its low cost and high throughput and it is very helpful for the diagnosis and treatment of KS.