Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

Edip Unal Amine Aktar Karakaya Aslı Beştaş Ruken Yıldırım Funda Feryal Taş Hüseyin Onay Ferda Özkınay Yusuf Kenan Haspolat

Published in: Journal of endocrinological investigation (2020)

We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.

Keyphrases

copy number
genome wide
end stage renal disease
genome wide identification
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors
dna methylation
high resolution
gene expression
risk factors
type diabetes
skeletal muscle
bioinformatics analysis