Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India
INTERNATIONAL JOURNAL OF HUMAN GENETICS
Authors: Bajaj, Shailesh; Nampoothiri, Sheela; Yesodharan, Dhanya; Gambhir, Prakash; Ranade, Suvidya
Abstract
Cornelia 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.
A novel pathogenic variant in the SMC1A gene in a patient with atypical Cornelia de Lange syndrome identified by whole exome sequencing
EUROPEAN JOURNAL OF HUMAN GENETICS
Authors: Kaname, T.; Yanagi, K.; Chinen, Y.; Matsui, Y.; Iso, M.; Kuroki, Y.; Ganaha, A.; Matsubara, Y.
Abstract
COA
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