Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (workshop II)

J. Timothy Wright, Clark Morris, Suzanne E. Clements, Rena D'Souza, Olivier Gaide, Marja Mikkola, Jonathan Zonana

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Hereditary conditions are traditionally classified based either on physical/physiological attributes or using the names of the individuals credited with identifying the condition. For the 170 plus conditions classified as ectodermal dysplasias (EDs), both of these nosological systems are used, at times interchangeably. Over the past decade our knowledge of the human genome and the molecular basis of the EDs have greatly expanded providing the impetus to consider alternative classification systems. The incorporation of the molecular basis of hereditary conditions adds important information allowing effective transfer of objective genetic information that can be lacking from traditional classification systems. Molecular information can be added to the nosological system for the EDs through a hierarchical- and domain-based approach that encompasses the condition's name, mode of inheritance, molecular pathway affected, and specific molecular change. As new molecular information becomes available it can be effectively incorporated using this classification approach. Integrating molecular information into the ED classification system, while retaining well-recognized traditional syndrome names, facilitates communication at and between different groups of people including patients, families, health care providers, and researchers.

Original languageEnglish (US)
Pages (from-to)2062-2067
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number9
DOIs
StatePublished - Sep 1 2009

Keywords

  • Classification
  • Ectodermaldysplasia
  • Genetic
  • Molecular

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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