Ovarian failure related to eukaryotic initiation factor 2B mutations.
Ovarian failure (OF) at age <40 years occurs in approximately 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. We studied eight patients who presented with premature OF and white-matter abnormalities on magnetic resonance imaging. Neurological signs may be absent or present after OF. In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy. The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway.
Fogli
Anne
A
INSERM Unité Mixte de Recherche 384, Faculté de Médecine, Clermont-Ferrand, France.
Rodriguez
Diana
D
Eymard-Pierre
Eléonore
E
Bouhour
Françoise
F
Labauge
Pierre
P
Meaney
Brandon F
BF
Zeesman
Susan
S
Kaneski
Christine R
CR
Schiffmann
Raphael
R
Boespflug-Tanguy
Odile
O
D017668:Age of Onset; D015852:Eukaryotic Initiation Factor-2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009186:Myelin Sheath / Q000000981:diagnostic imaging / Q000502:physiology; D016649:Primary Ovarian Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D012720:Severity of Illness Index
D015852:Eukaryotic Initiation Factor-2