Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.

ABSTRACT:

Context

Necdin activates GNRH gene expression and is fundamental for the development, migration, and axonal extension of murine GNRH neurons. In humans, necdin plays a potential role in the hypogonadotropic hypogonadism phenotype in patients with Prader-Willi syndrome.

Aim

To investigate necdin gene (NDN) variants in patients with isolated hypogonadotropic hypogonadism (IHH).

Patients and methods

We studied 160 Brazilian patients with IHH, which includes 92 with Kallmann syndrome and 68 with normosmic IHH. Genomic DNA was extracted and the single NDN exon was amplified and sequenced. To measure GNRH transcriptional activity, luciferase reporter plasmids containing GNRH regulatory regions were transiently transfected into GT1-7 cells in the presence and absence of over

SUBMITTER: Beneduzzi D 

PROVIDER: S-EPMC3203643 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature