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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Author

  • Jacqueline Schoumans
  • Josephine Wincent
  • Michela Barbaro
  • Tatjana Djureinovic
  • Paula Maguire
  • Lena Forsberg
  • Johan Staaf
  • Ann Charlotte Thuresson
  • Åke Borg
  • Ann Nordgren
  • Gunilla Malm
  • Britt Marie Anderlid
Show all

Summary, in English

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene. We performed a mutation screening of all NIPBL coding exons by direct sequencing in 11 patients ( nine sporadic and two familial cases) diagnosed with CdLS in Sweden and detected mutations in seven of the cases. All were de novo, and six of the mutations have not been previously described. Four patients without identifiable NIPBL mutations were subsequently subjected to multiplex ligation-dependent probe amplification analysis to exclude whole exon deletions/duplications of NIPBL. In addition, mutation analysis of the 50 untranslated region (5' UTR) of NIPBL was performed. Tiling resolution array comparative genomic hybridization analysis was carried out on these four patients to detect cryptic chromosome imbalances and in addition the boys were screened for SMC1L1 mutations. We found a de novo 9p duplication with a size of 0.6Mb in one of the patients with a CdLS-like phenotype but no mutations were detected in SMC1L1. So far, two genes ( NIPBL and SMC1L1) have been identified causing CdLS or CdLS-like phenotypes. However, in a considerable proportion of individuals demonstrating the CdLS phenotype, mutations in any of these two genes are not found and other potential loci harboring additional CdLS-causing genes should be considered.

Department/s

  • Breastcancer-genetics

Publishing year

2007

Language

English

Pages

143-149

Publication/Series

European Journal of Human Genetics

Volume

15

Issue

2

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Keywords

  • chromosome
  • array-CGH
  • mutation
  • Cornelia de Lange syndrome
  • NIPBL
  • abnormalities
  • SMC1L1

Status

Published

ISBN/ISSN/Other

  • ISSN: 1476-5438