Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

ABSTRACT:

Objective

To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis.

Design

Whole-exome sequencing in the context of clinical genetics.

Setting

University hospital.

Patient(s)

Two women (36 and 32 years old at the time of the study) with EFS.

Intervention(s)

Genetic counseling based on autosomal recessive inheritance.

Main outcome measure(s)

Discovery of a mutation in the LH/choriogonadotropin receptor (LHCGR) as the cause of EFS.

Result(s)

A novel missense mutation in LHCGR, p.N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents. The mutation was not present in 500 ancestry-matched control subjects. Asparagine at resid

SUBMITTER: Yariz KO 

PROVIDER: S-EPMC3143235 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature