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Updated: May 9, 2026
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Xenopus laevis as a Model to Identify Translation Impairment
Published on: September 27, 2015
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency
Thushiga Kasippillai1, Daniel G MacArthur, Andrew Kirby
1Reproductive Endocrine Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.
The Journal of Clinical Endocrinology and Metabolism
|August 2, 2013
Summary
A genetic study identified a new gene, eIF4ENIF1, linked to early menopause in a family. This finding highlights the role of translation initiation factors in ovarian function.
Area of Science:
- Genetics
- Reproductive Endocrinology
- Molecular Biology
Background:
- Primary ovarian insufficiency (POI) is characterized by follicle depletion and elevated FSH before age 40.
- A family presented with 9 women experiencing menopause around age 30 across three generations.
- A genetic cause with dominant inheritance was hypothesized.
Purpose of the Study:
- To investigate the genetic basis of early-onset POI in a multi-generational family.
- To identify specific gene variants responsible for premature menopause.
- To explore the role of translation initiation factors in ovarian function.
Main Methods:
- A family-based genetic study design was employed.
- Whole-exome sequencing was performed on affected and unaffected family members.
- Sanger sequencing was used to confirm variants in additional family members and unrelated POI cases.
Main Results:
- A heterozygous stop codon (Ser429X) in the eukaryotic translation initiation factor 4E nuclear import factor 1 (eIF4ENIF1) gene was identified in all affected women.
- This deleterious variant segregated with POI in the family, with a low probability of occurring by chance.
- No additional mutations in eIF4ENIF1 or eIF4E were found in 38 unrelated women with POI.
Conclusions:
- The study identified eIF4ENIF1 as a novel gene associated with dominantly inherited POI.
- These findings underscore the critical role of translation initiation factors and their regulators in maintaining ovarian function.
- This research opens new avenues for understanding the genetic underpinnings of premature menopause.
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