Testicular expressed genes are missing in familial X-linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes

Eli Hershkovitz, Neta Loewenthal, Asaf Peretz, Ruti Parvari

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations

    Abstract

    Background: X-linked Kallmann syndrome (KS) is caused mainly by point mutations, in the KAL1 gene. Large deletions >1 Mb are rare events in the human population and commonly result in contiguous gene syndromes. Methods: A search for the mutation causing KS carried out on two pairs of first-degree cousins of 2 sisters. Results: Two different apparently independent deletions were found. The deleted sequences encompass the KAL1 gene and four known additional genes exclusively expressed in testis. Two of these genes belong to the FAM9 gene family, which shares some homology with the SCYP3 gene, previously implicated in azoospermia. One of the events causing the deletion may have been mediated by an L1 transposition, the other by a non-homologous end joining. Such non-homologous recombinations have not yet been reported in the KAL genomic region and thus this area may be more prone to deletions than previously expected. Conclusions: This is the first report on genetic characterization of KS with a deletion of solely testis-expressed genes. The absence of these genes may have unfavorable implications for the patients regarding future fertility.

    Original languageEnglish
    Pages (from-to)276-283
    Number of pages8
    JournalHormone Research
    Volume69
    Issue number5
    DOIs
    StatePublished - 1 May 2008

    Keywords

    • Contiguous gene deletion
    • FAM genes
    • Kallmann syndrome
    • L1 transposition
    • VCX genes

    ASJC Scopus subject areas

    • Endocrinology, Diabetes and Metabolism
    • Endocrinology

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