The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

ABSTRACT:

Objective

To determine the prevalence of digenic mutations in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS).

Design

Molecular analysis of DNA in IHH/KS patients.

Setting

Academic medical center.

Patient(s)

Twenty-four IHH/KS patients with a known mutation (group 1) and 24 IHH/KS patients with no known mutation (group 2).

Intervention(s)

DNA from IHH/KS patients was subjected to polymerase chain reaction-based DNA sequencing of the 13 most common genes (KAL1, GNRHR, FGFR1, KISS1R, TAC3, TACR3, FGF8, PROKR2, PROK2, CHD7, NELF, GNRH1, and WDR11).

Main outcome measure(s)

The identification of mutations absent in ≥188 ethnically matched controls. Both SIFT (sorting intolerant from tolerant) and conservation amo

SUBMITTER: Quaynor SD 

PROVIDER: S-EPMC3573697 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature