Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

Yorck Hellenbroich*, Karl Heinz Grzeschik, Martin Krapp, Tiantom Jarutat, Christa Lehrmann-Petersen, Karin Buiting, Gabriele Gillessen-Kaesbach

*Corresponding author for this work
8 Citations (Scopus)


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 3β-hydroxysteroid-Δ87-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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Issue number5
Pages (from-to)392-398
Number of pages7
Publication statusPublished - 09.2007

Research Areas and Centers

  • Research Area: Medical Genetics


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