A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia
| Autor: | I Maleva, Svetlana Madjunkova, P Noveski, Dijana Plaseska-Karanfilska, Valentina Sotiroska, Z Petanovski |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
endocrine system
medicine.medical_treatment Low copy repeats (LCRs) Non-allelic homologous recombination Case Report QH426-470 Biology medicine.disease_cause Intracytoplasmic sperm injection Male infertility Deletion(s) Nonallelic homologous recombination (NAHR) Genetics medicine Acrosome Gene DPY19L2 gene reproductive and urinary physiology Genetics (clinical) Globozoospermia Mutation urogenital system Low copy repeats medicine.disease Intra cytoplasmic sperm injection (ICSI) |
| Zdroj: | Balkan Journal of Medical Genetics : BJMG Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 73-76 (2013) |
| ISSN: | 1311-0160 |
| Popis: | Globozoospermia is a rare but severe terato- zoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total glo- bozoospermia are infertile, and even the application of intracytoplasmic sperm injection (ICsI) has met with disappointingly low success rates. In humans, several case reports of globozoosper - mia have demonstrated that two or more siblings were affected in each family, which suggested a genetic component to this disease. Currently, three genes are known to be associated with total globozoospermia in humans, SPATA16, PICK1 and DPY19L2 genes. Mutations in SPATA16 and PICK1 are rare causes of globozoospermia, found in only one patient each. several studies have suggested that DpY19L2 mu- tations are the major cause of globozoospermia in patients from different ethnic origins and different geographic regions. the most common DPY19L2 mutation is the 200 kb deletion arising from a nonal- lelic homologous recombination (NaHR) between the flanking low copy repeats (LCRs). Here we de- scribe the presence of a homozygous deletion of the DPY19L2 gene in two infertile Macedonian patients with 100.0% round headed spermatozoa, thus sug- gesting that this deletion represents a major cause of globozoospermia among Macedonian men. Keywords: Globozoospermia; DPY19L2 gene; Intra cytoplasmic sperm injection (ICsI); Nonallelic homologous recombination (NaHR); Low copy re- peats (LCRs); Deletion(s); Male infertility |
| Databáze: | OpenAIRE |
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