| CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. | |
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MedLine Citation:
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PMID: 19764077 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Choroideremia is an X-linked recessive retinal dystrophy characterized by progressive loss of the photoreceptor, the retinal pigment epithelium, and the choriocapillaris layers which ultimately can result in blindness by the fifth decade of life. The disease is caused by mutations in the gene CHM, which encodes a protein involved in the regulation of intracellular vesicular traffic. Typically, hemizygous males are affected by the disease and female carriers are asymptomatic with only a diffuse mottled pattern of hyperpigmentation on funduscopy. Uncommon instances of fully affected females have been described previously and these cases are proposed to arise from an skewed Lyonization mechanism preferentially inactivating the X chromosome carrying the normal CHM allele. In this work, the clinical and molecular features of two Mexican families with choroideremia are described. A novel and a previously described CHM mutation were identified. X-chromosome inactivation assays were performed in a total of 12 heterozygous carriers from the two families. In an affected female from family A, a random X-inactivation pattern was demonstrated; on the other hand, in a female carrier from family B displaying a conspicuous pattern of pigment epithelium mottling at the peripheral retina, a skewed X-inactivation pattern was found. However, the X-chromosome preferentially inactivated in this female was the one carrying the mutated allele. Our results add to the genotypic spectrum in choroideremia and does not support a correlation between X-inactivation status and abnormal retinal phenotype in heterozygous female carriers from these two families. |
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Authors:
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Hector J Perez-Cano; Rosa E Garnica-Hayashi; Juan C Zenteno |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-01 Completed Date: 2009-12-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2134-40 Citation Subset: IM |
Affiliation:
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Research Unit, Institute of Ophthalmology Conde De Valenciana, Mexico City, Mexico. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing
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genetics* Adult Aged Child Choroideremia / genetics* DNA Mutational Analysis Electroretinography Family Female Humans Male Middle Aged Polymorphism, Single Nucleotide Visual Acuity / genetics X Chromosome Inactivation / genetics, physiology* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Adaptor Proteins, Signal Transducing; 0/CHM protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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