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December 26, 2018

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

Author Affiliations
  • 1St John’s Institute of Dermatology, School of Basic and Medical Biosciences, King’s College London, London, England
  • 2As’ad Al-Hamad Dermatology Center, Kuwait
  • 3Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London, Guy’s Hospital, London SE1 9RT, England
JAMA Dermatol. Published online December 26, 2018. doi:10.1001/jamadermatol.2018.4665

Clinical diagnosis of inherited diseases may be challenging in consanguineous pedigrees, particularly if more than 1 disease is present. However, precision molecular diagnostics via next-generation sequencing technologies has improved the characterization and classification of inherited disorders, including for genodermatoses.1 Herein, we describe a complex phenotype with skin and renal abnormalities that whole-exome sequencing determined to be inheritance of 2 separate autosomal recessive disorders.

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