- Cornelia de Lange Syndrome (CdLS) is archetypical genetic syndrome characterized by intellectual disability, distinct facial features, upper limb anomalies, pernatal and postnatal growth retardation among other signs and symptoms. It is caused by mutations in genes that have a structural or regulatory function in the cohesion complex. Cohesin is a protein that plays a pivotal role in chromatid cohesion, gene expression and DNA repair. It is transmitted in an autosomal dominant and X-linked pattern.
- The Igenomix Cornelia de Lange Syndrome Precision Panel can serve as a directed and accurate diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
- The Igenomix Cornelia de Lange Syndrome Precision Panel is indicated in those cases where there is a clinical suspicion or diagnosis with or without the following manifestations:
- Intrauterine growth retardation
- Facial features: arched eyebrows, short nose with depressed bridge, long philtrum, thin lips etc
- Low-pitched, weak cry in infancy
- Increased muscle tone
- Respiratory and feeding difficulties
- Developmental delay
- Intellectual disability
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
- Early initiation of treatment with a multidisciplinary team in the form nutritional rehabilitation, hearing and visual aids, surgical repair of congenital heart disease and urinary system abnormalities with pertinent consultations to specialists.
- Risk assessment and genetic counselling of asymptomatic family members to identify the individuals at risk.
- Improvement of delineation of genotype-phenotype correlation.
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., … Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature reviews. Genetics, 19(10), 649–666. https://doi.org/10.1038/s41576-018-0031-0
Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A. M., & Tümer, Z. (2015). Cornelia de Lange syndrome. Clinical genetics, 88(1), 1–12. https://doi.org/10.1111/cge.12499
Sarogni, P., Pallotta, M. M., & Musio, A. (2020). Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. Journal of medical genetics, 57(5), 289–295. https://doi.org/10.1136/jmedgenet-2019-106277
Huisman, S., Redeker, E., Maas, S., Mannens, M., & Hennekam, R. (2013). High rate of mosaicism in individuals with Cornelia de Lange syndrome. Journal Of Medical Genetics, 50(5), 339-344. doi: 10.1136/jmedgenet-2012-101477
Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P., … Krantz, I. D. (2019). Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A, 179(2), 150–158. https://doi.org/10.1002/ajmg.a.61033