• PMID: 32219831
• Gene Name: DPY19L2
• Condition: Globozoospermia
• Association: Associated
• Mutation: c.384dup (p.Glu129*)
• Population size: 3
• Population details: 3 (2 affected siblings and their mother)
• Sex: Male
• Infertility type: Male infertility

[Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia]

Ren H, Ma X, Peng R, Li X, Ming L.

OBJECTIVE: To explore the molecular basis for two brothers affected with globozoospermia. METHODS: Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR). RESULTS: Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two brothers and their mother. A large heterozygous deletion, spanning approximately 164.5 kb and encompassing the entire DPY19L2 gene, was detected on chromosome 12 of the two patients and their father. CONCLUSION: The c.384dup (p.Glu129*) variant and deletion of the DPY19L2 gene probably underlie the pathogenesis of globozoospermia in the two patients, which was in keeping with the autosomal recessive inheritance of disease in this pedigree. FAU - Ren, Huijun AU - Ren H AD - Department of Clinical Laboratory, the First Affiliated Hospital of Zhengzhou University, Key Clinical Laboratory of Henan Province, Zhengzhou, Henan 450052, China. mingliang_2015@sina.com. FAU - Ma, Xiaohan AU - Ma X FAU - Peng, Ruoyu AU - Peng R FAU - Li, Xingwu AU - Li X