Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.

ABSTRACT: In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypothesised that there might be recurrent differences in DNA methylation in boys with hypospadias and that these might differ between patients born small versus appropriate for gestational age. Genome-wide Methylated DNA sequencing (MeD-seq) was performed on 32bp LpnPI restriction enzyme fragments after RE-digestion in leucocytes from 16 XY boys with unexplained proximal hypospadias, one with an unexplained XX testicular disorder/difference of sex development (DSD) and twelve, healthy, sex- and age-matched controls. Five of seven differentially methylated reg

SUBMITTER: van Bever Y 

PROVIDER: S-EPMC11373573 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature