Detection of KLHL10 gene mutations in patients with multiple morphological abnormalities of the sperm flagella
Objective Exploring the possible pathogenic genes in patients with multiple morphological abnormalities of the sperm flagella(MMAF).Methods The samples of MMAF patients were detected by whole exome sequencing(WES)to analyze possible pathogenic genes.Using scanning electron microscopy and transmission electron microscopy to observe the ultrastructure of sperm in MMAF patients.Analyze the mRNA expression of the target gene in the patient's sperm through qPCR.Results A heterozygous mutation in the KLHL10 gene was detected in one MMAF patient:c.317C＞T(p.Pro106Leu).Transmission electron microscopy results showed that the ultrastructure of the patient's sperm flagella was missing or disor-dered,the typical"9+2"structures in the axoneme could not be found competely.The qPCR results indicated that the mRNA expression of KLHL 10 in the patient's sperm decreased,which was only half of the control.However,the expression of CUL3 which binds to KLHL10,was 2.5 times higher than the control.Conclusion This study reported a case of KLHL10 gene C.317C＞T mutation in MMAF patients,which was first reported to cause male MMAF phenotype through insufficient haploid dose.
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