A HOMOZYGOUS DELETION OF THE DPY19L2 GENE
IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM
THE REPUBLIC OF MACEDONIA
Noveski P1, Madjunkova S1, Maleva I1, Sotiroska V2, Petanovski Z2, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts,
Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic
of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 73
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Abstract
Globozoospermia is a rare but severe teratozoospermia,
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 globozoospermia
are infertile, and even the application
of intracytoplasmic sperm injection (ICSI) has met
with disappointingly low success rates.
In humans, several case reports of globozoospermia
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 mutations
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 nonallelic
homologous recombination (NAHR) between
the flanking low copy repeats (LCRs). Here we describe
the presence of a homozygous deletion of the
DPY19L2 gene in two infertile Macedonian patients
with 100.0% round headed spermatozoa, thus suggesting
that this deletion represents a major cause of
globozoospermia among Macedonian men.
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