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E-GEOD-58793 - De novo homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family

Status
Released on 5 December 2015, last updated on 12 December 2015
Organism
Homo sapiens
Samples (1)
Array (1)
Protocols (6)
Description
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. 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.
Experiment type
comparative genomic hybridization by array 
Contacts
Hao Xu <xuhao198529@sina.com>, Dao Wen Wang, Jihong Liu, Shaogang Wang, Tao Wang, Zongzhe Li
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-GEOD-58793.idf.txt
Sample and data relationshipE-GEOD-58793.sdrf.txt
Raw data (1)E-GEOD-58793.raw.1.zip
Processed data (1)E-GEOD-58793.processed.1.zip
Additional data (1)E-GEOD-58793.additional.1.zip
Array designA-GEOD-16131.adf.txt
Links