DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations
نویسندگان
چکیده
منابع مشابه
DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoosper...
متن کاملP-204: Evaluation of DPY19L2 Gene Deletion As A Major Cause of Globozoospermia, in Iranian Globozoospermic Infertile Men
Background: Male infertility is a Multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men, the cause of their infertility is unknown (idiopathic) and could be congenital or acquired. Globozoospermia, also called round-headed spermatozoa, is a rare disease with incidence< 0.1% among male infertile patients. The most prominent feature of globozoospermi...
متن کاملMLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the abse...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2013
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gat018