Ophthalmologic Findings in Cornelia de Lange Syndrome
| Autor: | Terri L. Young, Femida Kherani, Sudha Nallasamy, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Ian D. Krantz, Maninder Kaur |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Cornelia de Lange Syndrome Adolescent Eye Diseases Genotype Mutation Missense Cell Cycle Proteins Frameshift mutation symbols.namesake Ptosis De Lange Syndrome Lacrimal Duct Obstruction Internal medicine Myopia medicine Blepharoptosis Humans Missense mutation Clinical significance Child Frameshift Mutation Fisher's exact test Retrospective Studies business.industry Infant Proteins NIPBL medicine.disease Strabismus Ophthalmology Phenotype Codon Nonsense Child Preschool symbols Female medicine.symptom business |
| Zdroj: | Archives of Ophthalmology. 124:552 |
| ISSN: | 0003-9950 |
| Popis: | Objective To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. Methods Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the study. We conducted a retrospective analysis of ophthalmologic data obtained through survey responses and medical records. The severity of nasolacrimal duct obstruction, myopia, ptosis, and strabismus was classified. The severity of eye findings was compared relative to the presence vs the absence of mutations in the coding region of NIPBL and relative to mutations predicted to result in a truncated protein (nonsense and frameshift mutations) vs missense mutations. Fisher exact test was used to determine the significance of these correlations. Results A trend toward increased ptosis severity was found among individuals with truncating (nonsense and frameshift) mutations compared with individuals with missense mutations ( P = .07). Conclusion NIPBL may be directly involved in ptosis pathogenesis. Clinical Relevance Elucidating the pathogenetic mechanisms of ophthalmologic morbidities in patients with de Lange syndrome may lead to more effective treatment. |
| Databáze: | OpenAIRE |
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