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• W2143544218 abstract "Summary The aim of this study was to provide a comprehensive genetic/phenotypic characterization of subjects suffering infertility owing to sperm macrocephaly ( n = 3) or globozoospermia ( n = 9) and to investigate whether the patients’ genetic status was correlated with the alteration of various sperm parameters. AURKC was sequenced in case of sperm macrocephaly while the DPY 19L2 status has been analyzed by multiple approaches including a novel qPCR –based copy number assay in case of globozoospermia. Globozoospermic patients were also analyzed for SPACA 1 , a novel candidate gene herein tested for the first time in humans. The effect of the patients’ genetic status was interrogated by implementing the molecular screening with the characterization of several sperm parameters: (i) routine sperm analysis, integrated with transmission electron microscopy; (ii) sperm fluorescent in situ hybridization ( FISH ) analysis; (iii) sperm DNA fragmentation ( DF ) analysis. Moreover, for the first time, we performed microsatellite instability analysis as a marker of genome instability in men with sperm macrocephaly and globozoospermia. Finally, artificial reproductive technology ( ART ) history has been reported for those patients who underwent the treatment. Macrocephalic patients had an AURKC mutation and >89% tetraploid, highly fragmented spermatozoa. DPY 19L2 was mutated in all patients with >80% globozoospermia: the two homozygous deleted men and the compound heterozygous showed the severest phenotype (90–100%). The newly developed qPCR method was fully validated and has the potential of detecting also yet undiscovered deletions. DPY 19L2 status is unlikely related to FISH anomalies and DF , although globozoospermic men showed a higher disomy rate and DF compared with internal reference values. No patient was mutated for SPACA 1 . Our data support the general agreement on the negative correlation between macro/globozoospermia and conventional intracytoplasmic sperm injection outcomes. Microsatellites were stable in all patients analyzed. The comprehensive picture provided on these severe phenotypes causing infertility is of relevance in the management of patients undergoing ART." @default.
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• W2143544218 date "2015-03-01" @default.
• W2143544218 modified "2023-10-06" @default.
• W2143544218 title "Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia" @default.
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• W2143544218 doi "https://doi.org/10.1111/andr.12016" @default.
• W2143544218 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25755131" @default.
• W2143544218 hasPublicationYear "2015" @default.
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