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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
American Journal of Medical Genetics, Part A, Volume 164, No. 8, Year 2014
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Description
High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation (XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution. The majority of patients had whole genome array-CGH prior to the selection and we did not include large rearrangements such as MECP2 and FMR1 duplications. We identified four rearrangements considered as causative or potentially pathogenic, corresponding to a detection rate of 8%. Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions). Two new CNVs were considered as potentially pathogenic as they affected interesting candidates for ID. The first CNV is a deletion of the first exon of the TRPC5 gene, encoding a cation channel implicated in dendrite growth and patterning, in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, in a patient with severe ID, epilepsy, and anomalies of cortical development. In both cases, in spite of strong arguments for clinical relevance, we were not able at this stage to confirm pathogenicity of the mutations, and the causality of the variants identified in XLID remains to be confirmed. © 2014 Wiley Periodicals, Inc.
Authors & Co-Authors
Mignon-Ravix, Cecile
France, Paris
Inserm
France, Marseille
Aix Marseille Université
Cacciagli, Pierre
France, Paris
Inserm
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Choucair, Nancy
France, Paris
Inserm
France, Marseille
Aix Marseille Université
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Popovici, Cornel
France, Marseille
Hopital la Timone
Missirian, Chantal
France, Marseille
Hopital la Timone
Milh, Mathieu D.
France, Paris
Inserm
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Megarbane, Andre
France, Paris
Inserm
France, Marseille
Aix Marseille Université
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Busa, Tiffany
France, Marseille
Hopital la Timone
Julia, Sophie
France, Toulouse
Hôpital Purpan
Girard, Nadine J.
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Badens, Catherine
France, Paris
Inserm
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Sigaudy, Sabine
France, Marseille
Hopital la Timone
Philip, Nicole
France, Paris
Inserm
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Villard, Laurent
France, Paris
Inserm
France, Marseille
Aix Marseille Université
Statistics
Citations: 28
Authors: 14
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.36602
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Participants Gender
Male