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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 residue 400 is highly conserved and its substitution by serine predicted to alter critical interactions that stabilize LHCGR. CONCLUSION(S):We describe a genetic basis for EFS and provide strong evidence for the existence of genuine EFS in some patients. A mutation impairing the function of LHCGR explains the lack of response of these patients to repeated administration of β-hCG.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Yariz KO,Walsh T,Uzak A,Spiliopoulos M,Duman D,Onalan G,King MC,Tekin M

doi

10.1016/j.fertnstert.2011.05.057

subject

Has Abstract

pub_date

2011-08-01 00:00:00

pages

e125-30

issue

2

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(11)00842-9

journal_volume

96

pub_type

杂志文章

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