Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Consistent gene mutation nomenclature is essential for efficient and accura te reporting, testing, and curation of the growing number of disease mutati ons and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been a dopted broadly by the medical genetics community, it is inherently difficul t to represent complex mutations in a unified manner. In this article, sugg estions are presented for reporting just such complex mutations. Hum Mutat 15:7-12, 2000. (C) 2000 Wiley Liss, Inc.