Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

ABSTRACT:

Context

The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening.

Objective

The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations.

Subjects

Two hundred nineteen KS patients were studied: 151 with identified rare sequence variants (RSVs) in 8 genes known to cause KS (KAL1, NELF, CHD7, HS6ST1, FGF8/FGFR1, or PROK2/PROKR2) and 68 KS subjects who remain RSV negative for all 8 genes.

Main outcome measures

Reproductive and nonreproductive phenotypes within each genetic group were measured.

Results

Male KS subjects with KAL1 RSVs di

SUBMITTER: Costa-Barbosa FA 

PROVIDER: S-EPMC3644607 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature