Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

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serval:BIB_B91F2881ACD6
Type
Article: article from journal or magazin.
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Publications
Institution
Title
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
Journal
Molecular Vision
Author(s)
Desmaison A., Vigouroux A., Rieubland C., Peres C., Calvas P., Chassaing N.
ISSN
1090-0535[electronic], 1090-0535[linking]
Publication state
Published
Issued date
2010
Volume
16
Pages
2847-2849
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Abstract
Purpose: Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6]) have been implicated mainly in isolated micro/anophthalmia but causative mutations of these genes explain less than a quarter of these developmental defects. The essential role of the LIM homeobox 2 (LHX2) transcription factor in early eye development has recently been documented. We postulated that mutations in this gene could lead to micro/anophthalmia, and thus performed molecular screening of its sequence in patients having micro/anophthalmia.
Methods: Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations. Mutation screening of LHX2 was performed by direct sequencing of the coding sequences and intron/exon boundaries.
Results: Two heterozygous variants of unknown significance (c.128C > G [p.Pro43Arg]; c.776C > A [p.Pro259Gln]) were identified in LHX2 among the 70 patients. These variations were not identified in a panel of 100 control patients of mixed origins. The variation c.776C > A (p.Pro259Gln) was considered as non pathogenic by in silico analysis, while the variation c.128C > G (p.Pro43Arg) considered as deleterious by in silico analysis and was inherited from the asymptomatic father.
Conclusions: Mutations in LHX2 do not represent a frequent cause of micro/anophthalmia.
Keywords
Amino Acid Sequence, Anophthalmos/genetics, Base Sequence, Cohort Studies, Conserved Sequence/genetics, Homeodomain Proteins/chemistry, Homeodomain Proteins/genetics, Humans, Microphthalmos/genetics, Molecular Sequence Data, Mutation, Missense/genetics, Transcription Factors/chemistry, Transcription Factors/genetics
Pubmed
Web of science
Create date
15/02/2011 11:05
Last modification date
20/08/2019 15:27
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