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Research
ruixue wang
Shanxi Provincial Peoples Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0002-0579-4458
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This work is licensed under a CC BY 4.0 License. Read Full License
Background: Kallmann syndrome is a hypogonadotropic hypogonadism accompanied by anosmia or hypoxia. More than 10 Kallmann syndrome pathogenic genes have been found. However, only 30% of the incidence of Kallmann syndrome is related to the above genes, suggesting that there are other disease-related genes of KS that have not been found.
Methods： We studied Kallmann syndrome pathogenesis through high-throughput exome sequencing on four patients with Kallmann syndrome 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 separated and genomic DNA was extracted. High-throughput sequencing of all exons in the candidate pathogenic genes of the probands was performed, and the results obtained were analyzed.
Results: Sequencing revealed mutations in the KLB, p.T313M, ANOS1, p.C172F, and IGSF10 (p.Lys1819Arg and p.Arg1035Thr) at different sites, which may have been associated with disease onset. Discovery of these sites can improve our understanding of KS pathogenesis and serve as a novel target in further studies on KS.
Conclusion: our analysis found new mutation sites to facilitate follow-up research. Diagnosis of Kallmann syndrome is a challenging, timely diagnosis and treatment can induce puberty, thereby improving sexual, bone, metabolic, and mental health.
Keywords
Kallmann syndrome, whole-exome sequencing, bioinformatics analysis, IGSF10, KLB, ANOS1
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This is a preprint. It has not completed peer review.
Research
ruixue wang
Shanxi Provincial Peoples Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0002-0579-4458
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 06 Mar, 2021
No community comments so far
Subject Areas
Biomedical Engineering
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Kallmann syndrome is a hypogonadotropic hypogonadism accompanied by anosmia or hypoxia. More than 10 Kallmann syndrome pathogenic genes have been found. However, only 30% of the incidence of Kallmann syndrome is related to the above genes, suggesting that there are other disease-related genes of KS that have not been found.
Methods： We studied Kallmann syndrome pathogenesis through high-throughput exome sequencing on four patients with Kallmann syndrome 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 separated and genomic DNA was extracted. High-throughput sequencing of all exons in the candidate pathogenic genes of the probands was performed, and the results obtained were analyzed.
Results: Sequencing revealed mutations in the KLB, p.T313M, ANOS1, p.C172F, and IGSF10 (p.Lys1819Arg and p.Arg1035Thr) at different sites, which may have been associated with disease onset. Discovery of these sites can improve our understanding of KS pathogenesis and serve as a novel target in further studies on KS.
Conclusion: our analysis found new mutation sites to facilitate follow-up research. Diagnosis of Kallmann syndrome is a challenging, timely diagnosis and treatment can induce puberty, thereby improving sexual, bone, metabolic, and mental health.
Figure 1
Figure 2
Figure 3
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