Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata |
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| Authors: | Hellenbroich Yorck Grzeschik Karl-Heinz Krapp Martin Jarutat Tiantom Lehrmann-Petersen Christa Buiting Karin Gillessen-Kaesbach Gabriele |
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| Affiliation: | 1. University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA;2. Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI 48906, USA;1. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;2. Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.;3. Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.;4. Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.;5. Children’s National Health System, Washington, DC, USA. |
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| Abstract: | X-linked dominant chondrodysplasia punctata (Conradi-Hünermann disease, CDPX2) is characterised by short stature, stippled epiphyses, cataracts, ichthyosiform erythroderma and patchy alopecia of the scalp. The disorder is caused by mutations within the emopamil binding protein (EBP) gene encoding a 3beta-hydroxysteroid-Delta(8),Delta(7)-isomerase. The intrafamilial variation of disease severity is a known feature of CDPX2 probably caused by skewed X-inactivation. We report on a female fetus with typical symptoms of CDPX2 such as short limbs, postaxial polydactyly, ichthyotic skin lesions and punctate calcifications. Molecular genetic analysis of the EBP gene revealed a nonsense mutation (c.328C>T, p.R110X), which was previously detected in one CDPX2 patient and in a second female patient, who was only affected on one body side and erroneously diagnosed as CHILD syndrome. Surprisingly, the mother of our fetus carries the same mutation without having any signs of CDPX2. X-inactivation studies did not reveal any evidence of skewing neither in the mother nor in the fetus. |
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| Keywords: | CDPX2 EBP Chondrodysplasia punctata X-inactivation Reduced penetrance Intrafamilial phenotypic variability |
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