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

Abstract

PURPOSE:

To report a case of posterior microphthalmos caused by novel compound heterozygous mutations in the membrane-type frizzled-related protein (MFRP) gene.

METHODS:

A 9-year-old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing.

RESULTS:

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.

CONCLUSIONS:

Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.

• Authors: Itsuka Matsushita, Hiroyuki Kondo, Akihiko Tawara
• Journal: Japanese journal of ophthalmology (Jpn J Ophthalmol) Vol. 56 Issue 4 Pg. 396-400 (Jul 2012) ISSN: 1613-2246 [Electronic] Japan
• PMID: 22565643 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• MFRP protein, human
• Membrane Proteins

Topics

• Asian People (genetics)
• Axial Length, Eye (pathology)
• Child
• Codon, Nonsense
• DNA Mutational Analysis
• Electroretinography
• Female
• Fluorescein Angiography
• Heterozygote
• Humans
• Japan
• Magnetic Resonance Imaging
• Membrane Proteins (genetics)
• Microphthalmos (genetics)
• Pedigree
• Polymerase Chain Reaction
• Posterior Eye Segment (abnormalities)
• Tomography, Optical Coherence