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Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : International Journal of Human Genetics, Routledge.
Source : International Journal of Human Genetics, Routledge, Volume 16, Number 1-2, p.61-69 (2016)
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2016
Abstract : AbstractCornelia de Lange Syndrome-1 (CdLS; OMIM # 122470) is a multisystem, congenital, developmental disorder caused by heterozygous mutation in NIPBL gene on chromosome 5p13. CdLS is characterized by growth and developmental delay, facial dysmorphism, limb abnormality and other organ defects. The condition is mainly caused due to mutation in one of the cohesin ring forming genes. Among NIPBL, SMC1A and SMC3; NIPBL is mainly responsible for causing CdLS. To date molecular data for Indian CdLS patients is not available. Entire NIPBL gene has been screened in 12 children showing CdLS using MLPA in this study. The study reports entire gene deletion in one proband and partial gene deletion in the second proband. The observed deletion was in heterozygous condition in both the cases. The finding was validated by real time PCR
Cite this Research Publication : S. Bajaj, Nampoothiri, S., Yesodharan, D., Gambhir, P., and Ranade, S., “Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India”, International Journal of Human Genetics, vol. 16, pp. 61-69, 2016.