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Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
- Source :
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Molecular vision [Mol Vis] 2010 Dec 18; Vol. 16, pp. 2847-9. Date of Electronic Publication: 2010 Dec 18. - Publication Year :
- 2010
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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.<br />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.<br />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.<br />Conclusions: Mutations in LHX2 do not represent a frequent cause of micro/anophthalmia.
- Subjects :
- Amino Acid Sequence
Base Sequence
Cohort Studies
Conserved Sequence genetics
Homeodomain Proteins chemistry
Humans
LIM-Homeodomain Proteins
Molecular Sequence Data
Transcription Factors chemistry
Anophthalmos genetics
Homeodomain Proteins genetics
Microphthalmos genetics
Mutation, Missense genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1090-0535
- Volume :
- 16
- Database :
- MEDLINE
- Journal :
- Molecular vision
- Publication Type :
- Academic Journal
- Accession number :
- 21203406