G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 763-765

  Kunishima, Shinji ^a   Tomii, Toshihiro ^b   Kudo, Kazuko ^b   Saito, Hidehiko ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; GUANINE; IMMUNOGLOBULIN; NUCLEOTIDE; PREDNISOLONE; THYMINE;

ADULT; AUTOIMMUNE THROMBOCYTOPENIA; CASE REPORT; CELL INCLUSION; ELECTROPHORESIS; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HERNIOPLASTY; HUMAN; IMMUNOFLUORESCENCE TEST; LETTER; MAY HEGGLIN ANOMALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYH9 GENE; NUCLEIC ACID BASE SUBSTITUTION; RNA ANALYSIS; RNA SPLICING; SPLENECTOMY; SPLICING DEFECT; SUDDEN DEAFNESS; THROMBOCYTE;

EXONS; FEMALE; HUMANS; MOLECULAR MOTOR PROTEINS; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; NONMUSCLE MYOSIN TYPE IIA; NUCLEOTIDES;

EID: 84869876048     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.09.001     Document Type: Letter

References (5)

1. Vettore S., De Rocco D., Gerber B., Scandellari R., Bianco A.M., Balduini C.L., Pecci A., Fabris F., Savoia A. A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur. J. Med. Genet. 2010, 53:256-260.
2. Kunishima S., Saito H. Advances in the understanding of MYH9 disorders. Curr. Opin. Hematol. 2010, 17:405-410.
3. Kunishima S., Matsushita T., Kojima T., Sako M., Kimura F., Jo E.K., Inoue C., Kamiya T., Saito H. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab. Invest. 2003, 83:115-122.
4. Kunishima S., Hamaguchi M., Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood 2008, 111:3015-3023.
5. Kunishima S., Matsushita T., Hamaguchi M., Saito H. Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders. Eur. J. Haematol. 2008, 80:540-544.