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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence
Human Mutation, Volume 29, No. 7, Year 2008
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Description
Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected individuals with the two genes inactivated on each allele. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, we detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the deletion are deficient in EVC and EVC2 and have no increase in the severity of the EvC typical features. Similarly deletion carriers demonstrate absence of digenic inheritance in EvC. Further, the phenotype of these patients suggests that the EVC-STK32B deletion also leads to mild mental retardation and reveals that loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit. In an EvC compound heterozygote of different ethnic origin we identified the same LINE-to-LINE rearrangement due to a different recombination event. These findings highlight the importance of L1 repetitive sequences in human genome architecture and disease. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Temtamy, Samia Ali Li
Egypt, Giza
National Research Centre
Aglan, Mona Sabry
Egypt, Giza
National Research Centre
Valencia, Maria
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Cocchi, Guido
Italy, Bologna
Alma Mater Studiorum Università Di Bologna
Pacheco, Maria
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Ashour, Adel Mohamed
Egypt, Giza
National Research Centre
Amr, Khalda Sayed
Egypt, Giza
National Research Centre
Helmy, Sanaa M.H.
Egypt, Giza
National Research Centre
El-Gammal, Mona A.
Egypt, Giza
National Research Centre
Wright, Michael J.
United Kingdom, Newcastle
Newcastle University
Lapunzina-Badía, Pablo Daniel
Spain, Madrid
Universidad Autónoma de Madrid
Goodship, Judith A.
United Kingdom, Newcastle
Newcastle University
Ruiz-Perez, Victor L.
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Spain, Madrid
Universidad Autónoma de Madrid
Statistics
Citations: 54
Authors: 13
Affiliations: 5
Identifiers
Doi:
10.1002/humu.20778
ISSN:
10597794
Research Areas
Cancer
Genetics And Genomics