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Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia
- Source :
- Molecular Vision, vol. 16, pp. 2847-2849, Molecular Vision
- Publication Year :
- 2010
-
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.
- Subjects :
- Homeodomain Proteins
congenital, hereditary, and neonatal diseases and abnormalities
Base Sequence
LIM-Homeodomain Proteins
Molecular Sequence Data
Mutation, Missense
Anophthalmos
eye diseases
Cohort Studies
Amino Acid Sequence
Anophthalmos/genetics
Conserved Sequence/genetics
Homeodomain Proteins/chemistry
Homeodomain Proteins/genetics
Humans
Microphthalmos/genetics
Mutation, Missense/genetics
Transcription Factors/chemistry
Transcription Factors/genetics
embryonic structures
Microphthalmos
Conserved Sequence
Research Article
Transcription Factors
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Molecular Vision, vol. 16, pp. 2847-2849, Molecular Vision
- Accession number :
- edsair.pmid.dedup....7e58fd1866112cdf7bb49ad6235239d2