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Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Content Provider	Springer Nature Link
Author	Kuzniacka, Alina Wierzba, Jolanta Ratajska, Magdalena Lipska, Beata S. Koczkowska, Magdalena Malinowska, Monika Limon, Janusz
Copyright Year	2012
Abstract	Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.
Starting Page	27
Ending Page	33
Page Count	7
File Format	PDF
ISSN	12341983
Journal	Journal of Applied Genetics
Volume Number	54
Issue Number	1
e-ISSN	21903883
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-12-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cornelia de Lange syndrome NIPBL gene Point mutations Large genomic rearrangements Life Sciences Animal Genetics and Genomics Human Genetics Microbial Genetics and Genomics Plant Genetics & Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine

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Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

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