Sun SS, Wang RX. Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches. World J Diabetes 2021; 12(12): 2058-2072 [PMID: 35047120 DOI: 10.4239/wjd.v12.i12.2058]
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Author contributions: Sun SS performed the research; Wang RX contributed to writing of the original draft, preparation of the paper for submission and revising of the manuscript for important intellectual content.
Institutional review board statement: The study was reviewed and approved by the Institutional Review Board of Shanxi Provincial People's Hospital.
Conflict-of-interest statement: The authors declare no conflicts of interest.
Data sharing statement: The data to support the findings in the study are available from the corresponding author upon reasonable request.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Received: August 24, 2021 Peer-review started: August 24, 2021 First decision: September 5, 2021 Revised: September 7, 2021 Accepted: November 25, 2021 Article in press: November 25, 2021 Published online: December 15, 2021 Processing time: 114 Days and 5.8 Hours
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.
