| A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. | |
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MedLine Citation:
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PMID: 20809772 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys). METHODS: Case Report. RESULTS: We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys). CONCLUSION: This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye. |
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Authors:
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Gerard P Barry; Betina Mucha-Le Ny; Elaine H Zackai; Lili Grunwald; Brian J Forbes |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-09-01 |
Journal Detail:
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Title: Ophthalmic genetics Volume: 31 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-11 Completed Date: 2011-01-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 193-5 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Acrocephalosyndactylia / genetics* Anterior Eye Segment / abnormalities* Cornea / abnormalities DNA Mutational Analysis Eye Abnormalities / diagnosis, genetics* Female Gestational Age Glaucoma / genetics Humans Infant Limbus Corneae / abnormalities Point Mutation* Receptor, Fibroblast Growth Factor, Type 2 / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.112/FGFR2 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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