Ontology highlight
ABSTRACT:
SUBMITTER: Houston BJ
PROVIDER: S-EPMC7718740 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Houston Brendan J BJ Oud Manon S MS Aguirre Daniel M DM Merriner D Jo DJ O'Connor Anne E AE Okutman Ozlem O Viville Stéphane S Burke Richard R Veltman Joris A JA O'Bryan Moira K MK
G3 (Bethesda, Md.) 20201203 12
Globozoospermia is a rare form of male infertility where men produce round-headed sperm that are incapable of fertilizing an oocyte naturally. In a previous study where we undertook a whole exome screen to define novel genetic causes of globozoospermia, we identified homozygous mutations in the gene <i>PDCD2L</i> Two brothers carried a p.(Leu225Val) variant predicted to introduce a novel splice donor site, thus presenting <i>PDCD2L</i> as a potential regulator of male fertility. In this study, w ...[more]