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2 - Genetics of neurocutaneous disorders

Published online by Cambridge University Press:  31 July 2009

By
Kit-Sing Au  and
Hope Northrup
Edited by
E. Steve Roach  and
Van S. Miller
Kit-Sing Au
Affiliation:
Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
Hope Northrup
Affiliation:
Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
E. Steve Roach
Affiliation:
Wake Forest University, North Carolina
Van S. Miller
Affiliation:
University of Texas Southwestern Medical Center, Dallas
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Summary

Introduction

Neurocutaneous disorders in humans affect both the nervous system and the skin. Developmentally, both the skin and nervous system arise from embryonic ectoderm. There are more than 40 such disorders described in this text, with the majority displaying Mendelian inheritance. Mendelian inheritance refers to so-called ‘single gene’ conditions; conditions that have a specific clinical picture (phenotype) based on mutation of one gene. All the many facets of a disease and the multitude of differences between one affected person and another cannot be attributed entirely to the action of a single gene. There are modifier genes that influence phenotype as well as environmental conditions. ‘Single gene’ conditions are sometimes genetically heterogeneous; mutations in different genes can result in similar (often indistinguishable) phenotypes. Many of the neurocutaneous diseases exhibit variable phenotypes due to different mutations in a single gene (e.g. the proto-oncogene RET in multiple endocrine neoplasia type 2B (MEN2B), or the ATP-binding cassette C6 gene (ABCC6) in Pseudoxanthoma elasticum) while others have very similar phenotypes that result from mutations at different genetic loci (e.g. the Osler–Rendu–Weber syndromes and tuberous sclerosis complex). Disease-causing mutations in the causative genes have been identified for many of the neurocutaneous disorders during the past 15 years as a result of the rapid technologic advances in gene hunting. This chapter is devoted to discussing the hereditary patterns and causative genes.

Inheritance patterns

The hereditary influence on the traits of living organisms mainly resides in the chemical information of the nucleic acids (genes) of the organism.

Type
Chapter
Information
Neurocutaneous Disorders , pp. 6 - 23
Publisher: Cambridge University Press
Print publication year: 2004

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  • Genetics of neurocutaneous disorders
    • By Kit-Sing Au, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA, Hope Northrup, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.004
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  • Genetics of neurocutaneous disorders
    • By Kit-Sing Au, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA, Hope Northrup, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.004
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  • Genetics of neurocutaneous disorders
    • By Kit-Sing Au, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA, Hope Northrup, Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.004
Available formats
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