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Genetics

Mutation implicated in XX gonadal dysgenesis

Nature Reviews Endocrinology volume 12, page 4 (2016)Cite this article

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A new study has used homozygosity mapping and whole-exome sequencing to identify a recessive missense mutation in the gene that encodes nucleoporin-107 (NUP107, c.1339G>A, p.D447N) that is associated with XX gonadal dysgenesis in female individuals. The analysis involved an extended consanguineous family of Palestinian origin. The mutation was present in the four female family members with XX gonadal dysgenesis, but was not found in 150 healthy controls matched for ethnicity. Experiments in Drosophila melanogaster bearing the equivalent mutation indicated that the mutation causes defective oogenesis. The authors of the paper suggest that nucleoporin-107 is involved in ovarian development, and that defects in nucleoporins could be involved in common disorders such as premature ovarian failure.

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References

  1. Weinberg-Shukron, A. et al. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J. Clin. Invest. doi:10.1172/JCI83553

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  1. Claire Greenhill
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Greenhill, C. Mutation implicated in XX gonadal dysgenesis. Nat Rev Endocrinol 12, 4 (2016). https://doi.org/10.1038/nrendo.2015.192

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