Standard mutation nomeclature in molecular diagnostics: Practical and educational challenges

Journal of Molecular Diagnostics

Volumn 9, Issue 1, 2007, Pages 1-6

  Ogino, Shuji ^a,b,c   Gulley, Margaret L ^d   den Dunnen, Johan T ^e   Wilson, Robert B ^f   Payne, Deborah ^g   Lowery Nordberg, Mary C ^g   Gong, Jerald Z ^g   Krafft, Amy E ^g   Uphoff, Timothy S ^g   Donahue, Peter ^g   Hunt, Jennifer ^g   Garrison, Gladys ^g  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; FRAGILE X MENTAL RETARDATION PROTEIN; FRATAXIN; HFE PROTEIN; PHENYLALANINE; PROTHROMBIN; SURVIVAL MOTOR NEURON PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ACCURACY; AMINO ACID SEQUENCE; ARTICLE; CLINICAL LABORATORY; CONSENSUS DEVELOPMENT; CYSTIC FIBROSIS; DNA SEQUENCE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEALTH PRACTITIONER; HEMOCHROMATOSIS; HUMAN; HYPERHOMOCYSTEINEMIA; INTRON; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; NOMENCLATURE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRACTICE GUIDELINE; SPINAL MUSCULAR ATROPHY; STANDARD; VEIN THROMBOSIS; DIAGNOSTIC PROCEDURE; GENE; GENETICS; METHODOLOGY; MUTATION;

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENES; INTRONS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; REPETITIVE SEQUENCES, NUCLEIC ACID; TERMINOLOGY;

EID: 33947534854     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060081     Document Type: Article

References (19)

1. Horaitis O, Cotton RG: The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat 2004, 23:447-452
2. den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12
3. Antonarakis SE: Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998, 11:1-3
4. den Dunnen JT, Paalman MH: Standardizing mutation nomenclature: why bother? Hum Mutat 2003, 22:181-182
5. Ad Hoc Committee on Mutation Nomenclature: Update on nomenclature for human gene mutations. Hum Mutat 1996, 8:197-202
6. ACMG Laboratory Practice Committee Working Group: ACMG recommendations for standards for interpretation of sequence variations. Genet Med 2000, 2:302-303
7. Wain HM, Lush MJ, Ducluzeau F, Khodiyar VK, Povey S: Genew: the Human Gene Nomenclature Database, 2004 updates. Nucleic Acids Res 2004, 32:D255-D257
8. Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S: Guidelines for human gene nomenclature. Genomics 2002, 79:464-470
9. Obstacles of nomenclature. Nature 1997, 389:1
10. Wain H, White J, Povey S: The changing challenges of nomenclature. Cytogenet Cell Genet 1999, 86:162-164
11. Gopalan B, Litvak A, Sharma S, Mhashilkar AM, Chada S, Ramesh R: Activation of the Fas-FasL signaling pathway by MDA-7/IL-24 kills human ovarian cancer cells. Cancer Res 2005, 65:3017-3024
12. Korner A, Ma L, Franks PW, Kiess W, Baier LJ, Stumvoll M, Kovacs P: Sex-specific effect of the Val1483lle polymorphism in the fatty acid synthase gene (FAS) on body mass index and lipid profile in Caucasian children. Int J Obes (Lond) (in press)
13. Li Y, Raffo AJ, Drew L, Mao Y, Tran A, Petrylak DP, Fine RL: Fas-mediated apoptosis is dependent on wild-type p53 status in human cancer cells expressing a temperature-sensitive p53 mutant alanine-143. Cancer Res 2003, 63:1527-1533
14. Bertram J, Peacock JW, Tan C, Mui AL, Chung SW, Gleave ME, Dedhar S, Cox ME, Ong CJ: Inhibition of the phosphatidylinositol 3′-kinase pathway promotes autocrine Fas-induced death of phosphatase and tensin homologue-deficient prostate cancer cells. Cancer Res 2006, 66:4781-4788
15. Schijvenaars B, Mons B, Weeber M, Schuemie M, van Mulligen E, Wain H, Kors J: Thesaurus-based disambiguation of gene symbols. BMC Bioinformatics 2005, 6:149
16. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154
17. Ogino S, Wilson RB: Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations. Hum Mutat 2004, 23:392-393
18. Ogino S, Wilson RB: Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn 2004, 4:15-29
19. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Fopovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004, 6:387-391