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

Wright, J Timothy
Morris, Clark
Clements, Suzanne E.
D'Souza, Rena
Mikkola, Marja
Zonana, Jonathan
Published in American Journal of Medical Genetics. A. 2009, vol. 149A, no. 9, p. 2062-2067
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.
Keywords Ectodermal Dysplasia/*classification/*genetics/physiopathologyEctodysplasins/genetics*Genetic Predisposition to DiseaseGenotypeHumansKeratins/genetics*Molecular Biology/methodsMutation*Proteins/genetics/metabolismTrans-Activators/geneticsTranscription FactorsTumor Suppressor Proteins/genetics
PMID: 19681147
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Research group Voies d'activation de l'immunité innée au niveau de la peau (156)
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WRIGHT, J Timothy et al. Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II). In: American Journal of Medical Genetics. A, 2009, vol. 149A, n° 9, p. 2062-2067. doi: 10.1002/ajmg.a.32869 https://archive-ouverte.unige.ch/unige:20181

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Deposited on : 2012-04-23

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