Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.

Japanese Journal of Ophthalmology
Itsuka MatsushitaAkihiko Tawara

Abstract

To report a case of posterior microphthalmos caused by novel compound heterozygous mutations in the membrane-type frizzled-related protein (MFRP) gene. A 9-year-old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing. The patient had a short axial length, high hyperopia, crowded optic discs, and dilation and tortuosity of the retinal vessels. No signs of retinitis pigmentosa were present. A diagnosis of posterior microphthalmos rather than nanophthalmos was made because the corneal diameter and anterior chamber depth were normal. Genetic analysis revealed two novel nonsense mutations in the MFRP gene, Q123X and W443X. Her parents were heterozygous carriers of one of the mutations. Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.

References

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Jun 25, 2005·Proceedings of the National Academy of Sciences of the United States of America·Olof H SundinEthan M Weinberg
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Citations

Aug 13, 2013·Journal français d'ophtalmologie·O XerriO Roche
Jan 16, 2016·Ophthalmic Genetics·Fady K SammouhElias L Warrak
Oct 19, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Pattarapa UtokpatVorasuk Shotelersuk
Mar 3, 2020·Ophthalmic Genetics·Giacomo Maria BacciRoberto Caputo
Nov 20, 2015·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Yan XuQingjiong Zhang
Oct 1, 2020·Acta Ophthalmologica·Elena LangChristina Gerth-Kahlert
Aug 29, 2019·International Journal of Molecular Sciences·Mark Agostino, Sebastian Öther-Gee Pohl

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