2 documents found, page 1 of 1
Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutat...
Marić, Tihana; Castillo-Madeen, Helen; Klarić, Monika Logara; Barišić, Antun; Trgovec-Greif, Lovro; Murphy, Mark W.; Juchnewitsch, Anna-GreteThe most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutati...
Actionable secondary findings following exome sequencing of 836 non-obstructive...
Kasak, Laura; Lillepea, Kristiina; Nagirnaja, Liina; Aston, Kenneth I.; Schlegel, Peter N.; Gonçalves, João; Carvalho, Filipa; Moreno-Mendoza, DanielStudy question: What is the load, distribution and added clinical value of secondary findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive azoospermia (NOA)? Summary answer: One in 28 NOA cases carried an identifiable, medically actionable SF. What is known already: In addition to molecular diagnostics, ES allows assessment of clinically actionable disease-related gene variants tha...