Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

ABSTRACT:

Objective

To determine if mutations in NELF, a gene isolated from migratory GnRH neurons, cause normosmic idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS).

Design

Molecular analysis correlated with phenotype.

Setting

Academic medical center.

Patient(s)

A total of 168 IHH/KS patients as well as unrelated control subjects were studied for NELF mutations.

Intervention(s)

NELF coding regions/splice junctions were subjected to polymerase chain reaction (PCR)-based DNA sequencing. Eleven additional IHH/KS genes were sequenced in three patients with NELF mutations.

Main outcome measure(s)

Mutations were confirmed by sorting intolerant from tolerant, reverse-transcription (RT)-PCR, and Western blot analysis.

Result(s)

Three

SUBMITTER: Xu N 

PROVIDER: S-EPMC3888818 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature