• PMID: 20218307
• Gene Name: KLHL-10
• Condition: Azoospermia, oligospermia, asthenospermia
• Association: Associated
• Mutation: KLHL-10 ((C88 --> A), (C424 --> A))
• Population size: 425
• Population details: 425 (325 patients (11 with idiopathic azoospermia, 196 oligozoospermia, 118 with asthenospermia), 100 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: KLHL-10
• Other associated phenotypes: Azoospermia, oligospermia, asthenospermia

[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia]

Qiu QM, Liu G, Li WN, Shi QW, Zhu FX, Lu GX.

OBJECTIVE: To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia. METHODS: Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques. RESULTS: A novel heterozygous mutation (C88 --> A) was identified in exon 1 from 1 oligospermia patient and 3 fertile male controls and another one (C424 --> A) confirmed in exon 2 from 4 fertile controls, 3 oligospermia patients and 1 asthenospermia man. Both of the mutations were synonymous, but neither missense mutation nor microdeletion of the KLHL-10 gene was found. CONCLUSION: The KLHL-10 gene is not a major contributor to azoospermia, oligospermia or asthenospermia in Chinese population. The value of this gene in the diagnosis of male infertility remains to be further investigated. FAU - Qiu, Qing-Ming AU - Qiu QM AD - Institute of Human Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. gxqqm@yahoo.com.cn FAU - Liu, Gang AU - Liu G FAU - Li, Wei-Na AU - Li WN FAU - Shi, Qiu-Wen AU - Shi QW FAU - Zhu, Fu-Xi AU - Zhu FX