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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
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Journal Article
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
2010
Overview
The latent TGF
β
-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain proteins with structural and TGF
β
-signalling roles in the extracellular matrix. Their importance is underscored by fibrillin-1 mutations responsible for Marfan syndrome, but their respective roles are still incompletely understood. We report here on two families where children from healthy, consanguineous parents, presented with megalocornea and impaired vision associated with small, round, dislocated lenses (microspherophakia and ectopia lentis) and myopia, as well as a high-arched palate, and, in older children, tall stature with an abnormally large arm span over body height ratio, that is, associated features of Marfan syndrome. Glaucoma was not present at birth, but was diagnosed in older children. Whole genome homozygosity mapping followed by candidate gene analysis identified homozygous truncating mutations of
LTBP2
gene in patients from both families. Fibroblast mRNA analysis was consistent with nonsense-mediated mRNA decay, with no evidence of mutated exon skipping. We conclude that biallelic null LTBP2 mutations cause the ocular phenotype in both families and could lead to Marfan-like features in older children. We suggest that intraocular pressures should be followed-up in young children with an ocular phenotype consisting of megalocornea, spherophakia and/or lens dislocation, and recommend
LTBP2
gene analysis in these patients.
Publisher
Springer International Publishing,Nature Publishing Group
Subject
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Birth
/ Child
/ Children
/ Eye Abnormalities - complications
/ Eye Abnormalities - genetics
/ Female
/ Fundamental and applied biological sciences. Psychology
/ General aspects. Genetic counseling
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Glaucoma
/ Humans
/ Infant
/ Latent TGF-beta Binding Proteins - genetics
/ Latent TGF-beta Binding Proteins - metabolism
/ Male
/ Molecular and cellular biology
/ Mutation
/ Myopia
/ Nonsense-mediated mRNA decay
/ Palate
/ Pedigree
/ Proteins
/ Syndrome
/ Vision
