When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

ABSTRACT:

Context

A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations.

Objective

The objective of the study was to determine the correlation between the severity of the reproductive phenotype(s) and the number and functional severity of rare sequence variants in GNRHR.

Subjects

Eight hundred sixty-three probands with different forms of GnRH deficiency, 46 family members and 422 controls were screened for GNRHR mutations. The 70 subjects (32 patients and 38 family members) harboring mutations were divided into four groups (G1-G4) based on the functional severity of the mutations (complete or partial loss of function) and the number of affected alleles (monoallelic or biallelic) with mutations, and these c

SUBMITTER: Gianetti E 

PROVIDER: S-EPMC3431570 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature