LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
| العنوان: | LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma |
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| المؤلفون: | Marc Abramowicz, Françoise Meire, Yves Sznajer, Marc Schrooyen, Françoise Roulez, Fanny Depasse, Julie Désir |
| المصدر: | European Journal of Human Genetics European journal of human genetics |
| بيانات النشر: | Nature Publishing Group, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Marfan syndrome, Male, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, Article, Megalocornea, Microspherophakia, Marfan, Genetics, medicine, Humans, Eye Abnormalities, RNA, Messenger, Ectopia lentis, Child, Genetics (clinical), Base Sequence, Infant, Glaucoma, Syndrome, Sciences bio-médicales et agricoles, medicine.disease, Disease gene identification, Null allele, Exon skipping, Pedigree, Latent TGF-beta Binding Proteins, Child, Preschool, Mutation, microspherophakia, Female, Candidate Gene Analysis, megalocornea |
| الوصف: | The latent TGFbeta-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain proteins with structural and TGFbeta-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.European Journal of Human Genetics advance online publication, 24 February 2010; doi:10.1038/ejhg.2010.11. JOURNAL ARTICLE SCOPUS: ar.j info:eu-repo/semantics/published |
| وصف الملف: | 1 full-text file(s): application/pdf |
| اللغة: | English |
| تدمد: | 1476-5438 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77886f931702e3fe9c9b1362394e1cTest http://europepmc.org/articles/PMC2987369Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2f77886f931702e3fe9c9b1362394e1c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 10184813 |
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