作者
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Anita E Beck, James T Bennett, Lynne M Bird, John C Carey, Brian Chung, Robin D Clark, Timothy C Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B Dobyns, Philip F Giampietro, Katta M Girisha, Ian A Glass, John M Graham, Karen W Gripp, Chad R Haldeman-Englert, Bryan D Hall, A Micheil Innes, Jennifer M Kalish, Kim M Keppler-Noreuil, Kenjiro Kosaki, Beth A Kozel, Ghayda M Mirzaa, John J Mulvihill, Malgorzata JM Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F Rope, Pedro A Sanchez-Lara, Laurie H Seaver, Joseph T Shieh, Anne M Slavotinek, Andrew K Sobering, Cathy A Stevens, David A Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C Tsai, David D Weaver, Marc S Williams, Elaine Zackai, Yuri A Zarate
发表日期
2021/1/7
来源
The American Journal of Human Genetics
卷号
108
期号
1
页码范围
8-15
出版商
Elsevier
简介
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as "GENE-related phenotype descriptor" (e.g., "CFTR-related cystic fibrosis"). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and …
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LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya… - The American Journal of Human Genetics, 2021