Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men

Eloualid, Abdelmajid; Rafiey, Hassan; Rhaissi, Houria; Barakat, Abdelhamid; Louanjli, Noureddine; Bashamboo, Anu; McElreavey, Ken

doi:10.1016/j.fertnstert.2013.12.040

Cited by 25 publications

(21 citation statements)

References 24 publications

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“…In total, 250 individuals were genotyped and unexpectedly, only 1 heterozygous case was found (0.4 %). It seems surprising that we found such a low frequency compared to that established in the general North African population found to be 2 % (8 heterozygous out of 385 analyzed individuals) [12] or to the frequency in the Moroccan population estimated to be 1.7 % (8 out of 459) [26]. The frequency of homozygous for the c.144delC mutation among infertile population in our study was estimated to be 0.4 % (27 homozygous out of 6652 infertile men) which is consistent with the frequency of heterozygous carriers in the control population that we found (0.4 %).…”

Section: Discussioncontrasting

confidence: 88%

“…This was confirmed in Algerian and Moroccan populations [25,26,17]. We report here the first results of AURKC gene screening in a large cohort of Tunisian patients.…”

Section: Discussionsupporting

confidence: 75%

“…El Kerch et al found that among 18 Moroccan patients, 11 (61.1 %) carried the c.144delC mutation whereas no mutations were found for the remaining patients (38.9 %) [25]. By screening c.144delC mutation in 326 infertile Moroccan patients, Eloualid et al, found this mutation with an allelic frequency of 2.14 % (4 homozygous and 6 heterozygous out of 326) [26]. Ounis et al, analyzed 14 Algerian patients with macrozoospermia and found that c.144delC variant accounted for 71.4 % and p.Y248 * accounting for 7.1 % [17].…”

Section: Discussionmentioning

confidence: 99%

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Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Ghédir

Gribaa

Mamaï

et al. 2015

J Assist Reprod Genet

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Purpose Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % largeheaded multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations. Methods Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity. Results More than 80 % of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4 % among infertile men (27/6652). The frequency of heterozygosity was 0.4 % among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2 %) or in the Moroccan population (1.7 %).Conclusions We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of largeheaded multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.

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Section: Discussioncontrasting

confidence: 88%

“…This was confirmed in Algerian and Moroccan populations [25,26,17]. We report here the first results of AURKC gene screening in a large cohort of Tunisian patients.…”

Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 99%

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Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Ghédir

Gribaa

Mamaï

et al. 2015

J Assist Reprod Genet

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“…The c.144delC and c.744C.G mutations represented 85.5 and 13 % of the mutated alleles respectively [19]. Eloualid et al (2014) screened 326 infertile Moroccan patients for the presence of the AURKC c.144delC mutation. This mutation was detected in homozygous (4/326−1.23 %) and heterozygous (6/326-1.84 %) states, with frequencies of 1.23 and 1.84 %, respectively.…”

Section: Sperm Dna Fragmentation Studiesmentioning

confidence: 99%

“…Two homozygotes had azoospermia and the other 2 macrocephalic and multiflagellar spermatozoa. Eight heterozygous individuals carrying the c.144delC mutation were identified among 459 control fertile individuals (1.74 %) [20]. All 11 Moroccan males with a rate of macrocephalic spermatozoa representing at least 70 % of the total sperm concentration reported by El Kerch et al (2011) were homozygous for the c.144delC mutation [21].…”

Section: Sperm Dna Fragmentation Studiesmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

113

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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Autosomal Mutations and Spermatogenic Failure

Lima

2014

Encyclopedia of Life Sciences

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Male infertility is commonly due to an impairment in the production of viable sperm, capable of fertilisation. Spermatogenic failure can manifest in its most severe form by an absence of mature sperm or, more often, by a reduction in sperm counts, as an isolated phenotype or in combination with abnormalities in sperm motility and morphology. In only a fraction of patients with primary spermatogenic failure can an underlying genetic cause be identified, such as karyotype abnormalities and Y chromosome microdeletions. However, a small number of autosomal genes harbour rare variants/mutations with strong evidence of their impact in primary spermatogenic failure in otherwise healthy men ( SYCP3 , NR5A1 , DMRT1 , CATSPER , DNAI1 , DNAH5 , DNAH11 , SLC26A8 , AURKC , SPATA16 , DPY19L2 , KLHL10 and SEPT12 ). Even though the clinical relevance of the majority of these variants is still uncertain, they represent promising markers for spermatogenesis deficits. Key Concepts: Spermatogenesis is an intricate process and a large number of genes on the autosomes are involved. The etiopathogenesis of severe spermatogenic failure in otherwise healthy men is complex and still largely unknown. A highly penetrant genetic variant resulting in male infertility should be rare in a population. Validation of potentially deleterious variants must rely on the analysis of a large number of patients, replication in cohorts of different ethnicity, familial data and functional assays. Spermatogenic failure may result from the disturbance of many different processes (gonadal formation and maintenance, meiosis and morphological differentiation of gametes).

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Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men

Cited by 25 publications

References 24 publications

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Genetic aspects of monomorphic teratozoospermia: a review

Autosomal Mutations and Spermatogenic Failure

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