Clinical, Molecular and Biochemical Characterization of Nine Spanish Families with Conradi-Hünermann-Happle Syndrome: New Insights into CDPX2 With A Comprehensive Review of the Literature

Abstract

Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata (CP) which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)cholestenol and 8 dehydrocholesterol. We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using GC-MS, genetically using PCR and in their methylation status using the HUMARA assay. In our cases, there is a clear relationship between ...

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