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| Status |
Public on Dec 05, 2015 |
| Title |
De novo homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
Genome variation profiling by SNP array
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| Summary |
Kallmann syndrome is a genetically heterogeneous condition and a treatable form of male infertility. Defects in KAL1 gene have been implicated in Kallmann syndrome, which can be associated with X-linked ichthyosis in contiguous gene syndromes. In order to uncover the genetic cause of two brothers with Kallmann syndrome and X-linked ichthyosis, a custom semiconductor targeted resequencing panel to detect seventeen Kallmann syndrome causal genes and STS gene was designed. Next-generation sequencing was performed using this panel in the two affected brothers and their normal parents. To validate the result, we applied CytoScan™ HD array, quantitative real-time PCR and direct PCR electrophoresis analysis with the participants. The patients received clinical assessment, human chorionic gonadotropin treatment and follow-up for 39 months. The results showed that the two affected siblings have the same de novo deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene but showed different phenotypes in some respects. The secondary sex characteristics of the patients were greatly improved after treatment. We firstly reported that a de novo homozygous deletion contribute to KS with bilateral cryptorchidism and unilateral renal agenesis or normal kidney development and developed a cost-effective and reliable semiconductor targeted resequencing panel for genetic diagnosis of Kallmann syndrome in routinely obtained samples.
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| Overall design |
One of the two brothers with Kallmann syndrome and X-linked ichthyosis was analyzed for validation the results of the deletion detected by next-generation sequencing.
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| Contributor(s) |
Xu H, Li Z, Wang T, Wang S, Liu J, Wang D |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jun 24, 2014 |
| Last update date |
Jul 13, 2018 |
| Contact name |
Hao Xu |
| E-mail(s) |
xuhao198529@sina.com
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| Organization name |
Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
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| Department |
Urology
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| Street address |
Jiefang Ave.
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| City |
Wuhan, People’s Rep |
| ZIP/Postal code |
430030 |
| Country |
China |
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| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
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| Samples (1) |
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| Relations |
| BioProject |
PRJNA253497 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE58793_NB13211-1_II_2_processed_data.txt.gz |
24.6 Kb |
(ftp)(http) |
TXT |
| GSE58793_RAW.tar |
110.3 Mb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data included within Sample table |
| Processed data are available on Series record |
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