• PMID: 15284213
• Gene Name: DM1PK
• Condition: Idiopathic male subfertility
• Association: Associated
• Mutation: DM1PK (CTG repeats)
• Population size: 209
• Population details: 209 (107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n = 38) and oligoasthenoteratozoospermia (OAT) (n = 69), 102 men with proven fertility)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DM1PK
• Other associated phenotypes: Idiopathic male subfertility

CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility

Kunej T, Teran N, Zorn B, Peterlin B.

BACKGROUND: Polymorphism in the CTG triplet number in the myotonic dystrophy type 1 (DM1PK) gene has been proposed as being associated with idiopathic azoospermia. The aim of this study was to investigate whether the CTG trinucleotide amplification in the DM1PK gene is associated with male subfertility. METHODS: We evaluated 107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n = 38) and oligoasthenoteratozoospermia (OAT) (n = 69), and 102 men with proven fertility. Main outcome measures were CTG repeat size in the DM1PK gene, testicular volume, sperm concentration, rapid progressive motility, normal morphology, serum FSH levels, testicular histology and Johnsen score. RESULTS: In subfertile males, no minimal mutation or mutation carriers were found. The difference in the number of CTG repeat lengths between the groups was not statistically significant (P = 0.825). There was no correlation between the number of CTG repeats and the clinical parameters of subfertile patients: testicular volume, sperm concentration, rapid progressive motility, normal morphology, FSH level, testicular histology and Johnsen score. CONCLUSIONS: The number of CTG repeats in the normal or mutational range of DM1PK gene is associated with neither idiopathic male subfertility nor with clinical characteristics of male subfertility. FAU - Kunej, Tanja AU - Kunej T AD - Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre, 1000 Ljubljana, Slovenia. FAU - Teran, Natasa AU - Teran N FAU - Zorn, Branko AU - Zorn B