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Genetic studies in congenital anterior midline cervical cleft§

Authors

  • L.P. Jakobsen,

    Corresponding author
    1. Department of Plastic- and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    • Department of Plastic Surgery and Burn Unit, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
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  • P. Pfeiffer,

    1. Department of Plastic- and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
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  • M. Andersen,

    1. Department of Plastic- and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark
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  • H. Eiberg,

    1. Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
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  • L. Hansen,

    1. Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
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  • Y. Mang,

    1. Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
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  • M. Bak,

    1. The Wilhelm Johannsen Centre for Functional Genome Research, Institute for Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
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  • R.S. Møller,

    1. Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    2. Danish Epilepsy Centre, Dianalund, Denmark
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  • L.L. Klitten,

    1. Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    2. Danish Epilepsy Centre, Dianalund, Denmark
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  • N. Tommerup

    1. The Wilhelm Johannsen Centre for Functional Genome Research, Institute for Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
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  • How to Cite this Article: Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, Bak M, Møller RS, Klitten LL, Tommerup N. 2012. Genetic studies in congenital anterior midline cervical cleft. Am J Med Genet Part A. 158A:2021–2026.

  • Conflicts of interest: None.

  • §

    Clinical Report to American Journal of Medical Genetics.

Abstract

Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional cytogenetics, array-comparative genomic hybridization (CGH) and whole exome sequencing were performed, including a search of relevant syndromes in the Online Mendelian Inheritance in Man (OMIM) database. Array CGH indicated a loss of the PAPPA gene in one of the patients, while exome sequencing showed a mutation in SIX5 in another patient. Both aberrations were inherited from unaffected parents. These results most likely imply that the identified mutations are not disease-causing, although they may be contributing factors if CAMCC has a polygenic inheritance. © 2012 Wiley Periodicals, Inc.

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