Titre
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Molecular Vision
Auteur(s)
Desmaison, A.
Auteure/Auteur
Vigouroux, A.
Auteure/Auteur
Rieubland, C.
Auteure/Auteur
Peres, C.
Auteure/Auteur
Calvas, P.
Auteure/Auteur
Chassaing, N.
Auteure/Auteur
Liens vers les unités
ISSN
1090-0535[electronic], 1090-0535[linking]
Statut éditorial
Publié
Date de publication
2010
Volume
16
Première page
2847
Dernière page/numéro d’article
2849
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
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.
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.
PID Serval
serval:BIB_B91F2881ACD6
PMID
Date de création
2011-02-15T10:05:34.095Z
Date de création dans IRIS
2025-05-21T01:55:33Z
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BIB_B91F2881ACD6.P001.pdf
Version du manuscrit
preprint
Taille
2.6 MB
Format
Adobe PDF
PID Serval
serval:BIB_B91F2881ACD6.P001
URN
urn:nbn:ch:serval-BIB_B91F2881ACD67
Somme de contrôle
(MD5):6b20ebf3ced5c23b205ae7c1a35f79cd