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PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

Journal of Human Geneticsvolume 63pages965969 (2018) | Download Citation


Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We detected a novel, pathogenic de novo mutation in PTCH1 isoform 1b (c.114delG) in a BCNS patient. Furthermore, we elucidated the specific expression pattern of PTCH1 isoforms in normal skin, BCC and peripheral blood by studying expression of different PTCH1 isoforms. Human skin showed expression of isoforms 1b and 1d, while peripheral blood additionally showed 1a and 1e expression. BCCs showed expression of all isoforms. Here we report a patient with a novel, isoform 1b specific mutation in PTCH1 and thereby distinguish PTCH1 isoform 1b as the major transcript in the development of BCNS.

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We are grateful to Carolien N. van Oosterhoud, Renske Janssen and Anja R.M. Steyls for technical assistance.

Author contributions:

RG and MR conducted the research and have written the paper, MvG and KM have supervised the project, adjusted writing and are responsible for the overall content, HK identified and counseled the patient and family, AP provided the DNA diagnostics.

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  1. Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands

    • Robbert-Jan C. A. M. Gielen
    • , Marieke G. H. C. Reinders
    • , Klara Mosterd
    •  & Michel van Geel
  2. GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands

    • Marieke G. H. C. Reinders
    • , Klara Mosterd
    •  & Michel van Geel
  3. Department of Clinical Genetics, Helsinki University Hospital, HUS, Helsinki, Finland

    • Hannele K. Koillinen
  4. Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

    • Aimée D. C. Paulussen
    •  & Michel van Geel


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The authors declare that they have no conflict of interest.

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Correspondence to Michel van Geel.

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