Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome
Chen H, Zhu Y, Zhu Z, Zhi E, Lu K, Wang X, Liu F, Li Z, Xia W. Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome. Journal Of Medical Genetics 2018, 55: 150. PMID: 29330334, DOI: 10.1136/jmedgenet-2016-104404.Peer-Reviewed Original ResearchMeSH KeywordsAdultGenetic TherapyHeterozygoteHumansInfertility, MaleMaleMicrotubule-Associated ProteinsMutationPedigreeReproductive Techniques, AssistedSperm TailSpermatogenesisSpermatozoaConceptsAssisted reproduction treatmentFertilization rateClinical studiesReproduction treatmentWhole genomic DNAPatientsTeratozoospermia patientsControl individualsNovel missense mutationAbnormal junctionProtein 1 geneHeterozygous mutationsIntramanchette transportUnreported mutationsHeadless tailsGenetic cuesPopulation-matched control individualsReduced fertilization ratesGenomic therapyMorphological observationsProtein 1Genomic DNADysfunctional proteinsFurther studiesMolecular mechanisms