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Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities.

Abstract：

PURPOSE:To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion. DESIGN:Observational case report and laboratory investigation. METHODS:A patient with an interstitial deletion of chromosome 12 was clinically examined for ocular abnormalities. DNA samples were used for molecular studies to define the deletion boundaries. RESULTS:Ocular examination showed abnormalities of the anterior segment consistent with a diagnosis of cornea plana. Molecular analyses showed the deletion included the KERA gene, the SLRP (small leucine repeat protein) gene cluster, the genetic loci for autosomal-dominant (CNA1) and autosomal-recessive (CNA2) cornea plana, and a portion of the mapped locus for high myopia (MYP3). CONCLUSIONS:These results, combined with previous genetic linkage studies, identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1.

journal_name

Am J Ophthalmol

journal_title

American journal of ophthalmology

authors

Tocyap ML,Azar N,Chen T,Wiggs J

doi

10.1016/j.ajo.2005.09.024

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

566-567

issue

3

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(05)01032-9

journal_volume

141

pub_type

杂志文章

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