Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations
| العنوان: | Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations |
|---|---|
| المؤلفون: | Brandon F. Meaney, Raphael Schiffmann, Christine R. Kaneski, Odile Boespflug-Tanguy, Anne Fogli, Diana Rodriguez, Pierre Labauge, Francoise Bouhour, Eleonore Eymard-Pierre, Susan Zeesman |
| المصدر: | The American Journal of Human Genetics. (6):1544-1550 |
| بيانات النشر: | The American Society of Human Genetics. Published by Elsevier Inc. |
| مصطلحات موضوعية: | medicine.medical_specialty, Ataxia, Eukaryotic Initiation Factor-2, Molecular Sequence Data, Primary Ovarian Insufficiency, Biology, Bioinformatics, medicine.disease_cause, Severity of Illness Index, Pathogenesis, Leukoencephalopathy with vanishing white matter, Report, Internal medicine, Genetics, medicine, Humans, Initiation factor, Genetics(clinical), Age of Onset, Myelin Sheath, Genetics (clinical), Mutation, Leukodystrophy, medicine.disease, Radiography, Endocrinology, eIF2B, biology.protein, Female, Age of onset, medicine.symptom |
| الوصف: | Ovarian failure (OF) at age40 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. |
| اللغة: | English |
| تدمد: | 0002-9297 |
| DOI: | 10.1086/375404 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4630d09953bd7a08cc062a991e723361Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4630d09953bd7a08cc062a991e723361 |
| قاعدة البيانات: | OpenAIRE |
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