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A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)
- Source :
- Gene. 633
- Publication Year :
- 2017
-
Abstract
- Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with primary infertility; however, ~50% of the genetic alterations associated with MMAF remain unclear. Here, we reported the case of a 30-year-old infertile male from a consanguineous family. Whole-exome sequencing identified a homozygous mutation in the CEP135 gene (c.A1364T:p.D455V), with CEP135 previously reported to play a role in centriole biogenesis and specifically central pair assembly. D455V-mutated proteins formed protein aggregates in the centrosome and the flagella, which might potentially affect the function of centriole assembly. Moreover, intracytoplasmic sperm injection was performed using sperm from this patient; however, pregnancy failed following embryo transfer. This represents the first report of a homozygous mutation of CEP135 associated with MMAF. These results provide researchers and clinicians with a deeper understanding of the gene involved with MMAF and will help predict and assess pregnancy outcomes associated with in vitro fertilization.
- Subjects :
- 0301 basic medicine
Male
Centriole
medicine.medical_treatment
Biology
medicine.disease_cause
Protein Aggregation, Pathological
Intracytoplasmic sperm injection
03 medical and health sciences
Consanguinity
Pregnancy
Genetics
medicine
Humans
Exome
Sperm Injections, Intracytoplasmic
Exome sequencing
Infertility, Male
Centrioles
Centrosome
Mutation
In vitro fertilisation
Homozygote
General Medicine
Sequence Analysis, DNA
Sperm
Spermatozoa
Pedigree
030104 developmental biology
Sperm Tail
Female
CEP135
Carrier Proteins
Centriole assembly
Subjects
Details
- ISSN :
- 18790038
- Volume :
- 633
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....0bcf9ac199b8063e5b60a0e144e2aa62