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EBP

Exonic Deletion/Duplication Analysis by Array-CGH

This oligonucleotide microarray-based assay allows for the detection of exonic deletions or duplications of 105 genes currently tested in our laboratory. This is a custom designed array by Agilent technologies that contains ~140,000 probes present in a 4x180K format with probes more densely spaced in the exons of the genes being tested.  The array has been designed to detect copy number changes as small as 300-400 bp.  Single genes and custom panels of clinically related genes can be analyzed for deletions and duplications and results may be confirmed by qPCR, MLPA or alternative methodologies.

This assay will allow deletion/duplication analysis for disorders known to be caused by deletions or duplications within a single gene as well as for disorders for which the frequency of gene deletions/duplications is currently not well established. The array-CGH test is particularly indicated for disorders resulting from loss of function or haploinsufficiency. In addition, testing for exonic deletions/duplications is useful in autosomal recessive conditions in which only one mutation is identified by sequence analysis.  This assay will detect exonic deletions/duplications of the 105 genes on the array that may not be detected by whole genome array CGH.

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EBP deletion/duplication analysis

Patients with X-linked chondrodysplasia punctata (CDPX2) [OMIM #302960], also known as Happle syndrome or Conradi-Hünermann syndrome, have asymmetric shortening of the limbs, scoliosis, and widespread epiphyseal stippling, usually including the vertebral column and tracheal cartilage.  Another classic finding includes various skin abnormalities, like erythema and scaling “oat bran” ichthyosis in the newborn period or atrophoderma and ichthyosis in older children.

Mutations of the EBP [OMIM #300205] gene, or emopamil binding protein, have been identified in patients with CDPX2.  Patients with CDPX2 have increased tissue or plasma levels of 8(9)-cholestenol and 8-dehydrocholesterol.  Sterol analysis of plasma and scales from skin lesions is currently used for diagnosis and is available at the Clinical Mass Spectrometry Laboratory at Kennedy Krieger Institute.  This test may also distinguish CDPX2 from CHILD syndrome, a phenotypically similar condition caused by mutations in the NSDHL (NADH steroid dehydrogenase-like) gene.  Unpublished data in Dr. Richard Kelley’s lab shows that approximately 95% of patients with these biochemical findings are found to have a mutation in the EBP gene.

To date no deletions or duplications involving the EBP gene as causative of CDPX2 have been reported.

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EBP sequencing

Patients with X-linked chondrodysplasia punctata (CDPX2) [OMIM #302960], also known as Happle syndrome or Conradi-Hünermann syndrome, have asymmetric shortening of the limbs, scoliosis, and widespread epiphyseal stippling, usually including the vertebral column and tracheal cartilage.  Another classic finding includes various skin abnormalities, like erythema and scaling “oat bran” ichthyosis in the newborn period or atrophoderma and ichthyosis in older children.

Mutations of the EBP [OMIM #300205] gene, or emopamil binding protein, have been identified in patients with CDPX2.  Patients with CDPX2 have increased tissue or plasma levels of 8(9)-cholestenol and 8-dehydrocholesterol.  Sterol analysis of plasma and scales from skin lesions is currently used for diagnosis and is available at the Clinical Mass Spectrometry Laboratory at Kennedy Krieger Institute.  This test may also distinguish CDPX2 from CHILD syndrome, a phenotypically similar condition caused by mutations in the NSDHL (NADH steroid dehydrogenase-like) gene.  Unpublished data in Dr. Richard Kelley’s lab shows that approximately 95% of patients with these biochemical findings are found to have a mutation in the EBP gene.

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