• PMID: 18440997
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study concludes that AZFc rearrangements/polymorphisms are transmitted to sons and may represent a risk factor for decreased testis function and male subfertility,which needs con?rmation in further studies in larger cohorts. However, deletions of two
• Mutation: AZFc deletions
• Population size: 265
• Population details: 265 (178 ICSI, 141 male factor infertility, 4 female factor infertility, 6 combination of infertility, 19 unexplained infertility)
• Sex: Male
• Infertility type: Male infertility

Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number

Mau Kai C, Juul A, McElreavey K, Ottesen AM, Garn ID, Main KM, Loft A, Jørgensen N, Skakkebaek NE, Andersen AN, Rajpert-De Meyts E.

BACKGROUND: Deletions in the azoospermia factor (AZF) region of the Y chromosome are frequent in infertile men. The clinical consequences and the mode of inheritance of these deletions are not yet clear. METHODS: Y chromosome deletion mapping and quantitative PCR analysis of the DAZ-gene copy number, supplemented with haplogroup typing in deleted patients, were performed, in combination with clinical assessments in 264 fathers and their sons conceived by assisted reproduction techniques (ART), and in 168 fertile men with normal sperm concentration. RESULTS: In the ART fathers group, a complete AZFc deletion was detected in 0.4% (1/264). AZFc rearrangements/polymorphisms were found in 6.8% (18/264; 95% CI: 4.4-10.5), which was significantly more frequent (P = 0.021) than in the controls (3/168; 1.8%, 95% CI: 0.6-5.1). All deletions were transmitted to the sons, without any clinical symptoms in early childhood. In the fathers, there was no significant correlation between the DAZ copy number and the severity of spermatogenic failure. CONCLUSIONS: AZFc rearrangements/polymorphisms are transmitted to sons and may represent a risk factor for decreased testis function and male subfertility, which needs confirmation in further studies in larger cohorts. However, deletions of two DAZ gene copies are compatible with normal spermatogenesis and fertility. FAU - Mau Kai, C AU - Mau Kai C AD - University Department of Growth and Reproduction, Rigshospitalet, Section GR-5064, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. FAU - Juul, A AU - Juul A FAU - McElreavey, K AU - McElreavey K FAU - Ottesen, A M AU - Ottesen AM FAU - Garn, I D AU - Garn ID FAU - Main, K M AU - Main KM FAU - Loft, A AU - Loft A FAU - Jørgensen, N AU - Jørgensen N FAU - Skakkebaek, N E AU - Skakkebaek NE FAU - Andersen, A Nyboe AU - Andersen AN