Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome
Abstract
Background The mechanism of intramanchette transport is crucial to the transformation of sperm tail and the nuclear condensation during spermiogenesis. Although few dysfunctional proteins could result in abnormal junction between the head and tail of spermatozoon, little is known about the genetic cues in this process. Objective Based on patients with severe decapitated and decaudated spermatozoa (DDS) syndrome, the study aimed to validate whether new mutation exists on their Hook microtubule-tethering protein 1 ( HOOK1 ) genes and follow their results of assisted reproduction treatment (ART). Methods 7 severe teratozoospermia patients with DDS (proportion >95%) and three relative members in one pedigree were collected to sequence the whole genomic DNA. The fertilisation rates (FRs) of these patients were followed. Morphological observation and interspecies intracytoplasmic sperm injection (ICSI) assays were applied. Results A novel missense mutation of A to G (p.Q286R) in patients with DDS (n=3/7) was found in the HOOK1 gene, which was inherited from the mother in one patient. This variant was absent in 160 fertile population-matched control individuals. Morphological observation showed that almost all the DDS broke into decaudated heads and headless tails at the implantation fossa or the basal plate. The clinical studies indicated that the mutation might cause reduced FRs on both ART (FR=18.07%) and interspecies ICSI (FR=16.98%). Conclusions An unreported mutation in HOOK1…
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Live births after ICSI have been reported in acephalic/pinhead sperm syndrome, in particular when the few residual spermatozoa with a head and a tail were used.
“However, live births after ICSI have been reported, in particular when the few residual spermatozoa with a head and a tail were used, [50, 60, 61, 62, 63].”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [60]
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- Authors
- Chen, H., Zhu, Y., Zhu, Z., Zhi, E., Lu, K., Wang, X., Liu, F., Li, Z., & Xia, W.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Corresponding author
- Li, Zheng
- Xia, Weiliang
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2018-01-12
- Volume
- 55
- Issue
- 3
- Pages
- 150-157
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2783709319
- Cited by
- 43
- References
- 33
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 11 · 2023: 4 · 2022: 3 · 2021: 10 · 2020: 5 · 2019: 3
- FWCI
- 4.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- the National Basic Research Program,Ministry of Sci-ence and Technology of China
- the feature of single sperm transciptome and genome, and its application in the diagnosis of male infertility
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- novel missense mutation, teratozoospermia, spermiogenesis, fertilization rate, male infertility, heterozygous mutation
- MeSH terms
- Adult, Heterozygote, Humans, Infertility, Male, Male, Microtubule-Associated Proteins, Mutation, Pedigree, Sperm Tail, Spermatogenesis, Spermatozoa, Genetic Therapy, Reproductive Techniques, Assisted
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