Familial cases with MYH9 disorders caused by MYH9 S96L mutation

Pediatrics International

Volumn 55, Issue 1, 2013, Pages 102-104

  Murayama, Shizuko ^a   Akiyama, Masaharu ^a   Namba, Hiroyuki ^a   Wada, Yasuyuki ^a   Ida, Hiroyuki ^a   Kunishima, Shinji ^b  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

Author keywords

Epstein syndrome; macrothrombocytopenia; MYH9 disorders; MYH9 gene; nonmuscle myosin heavy chain IIA; renal failure

Indexed keywords

ADULT; ARTICLE; BLOOD SMEAR; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; FAMILIAL DISEASE; GENE; GENE MUTATION; GENETIC DISORDER; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MALE; MYH9 DISORDER; MYH9 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTOPENIA;

EID: 84874088978     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2012.03619.x     Document Type: Article

References (11)

1. Kunishima S, Saito H,. Advances in the understanding of MYH9 disorders. Curr. Opin. Hematol. 2010; 17: 405-10.
2. Epstein CJ, Sahud MA, Piel CF, et al,. Hereditary macrothrombocytopenia, nephritis and deafness. Am. J. Med. 1972; 52: 299-310.
3. Arrondel C, Vodovar N, Knebelmann B, et al,. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndrome. J. Am. Soc. Nephrol. 2001; 13: 65-74.
4. Kunishima S, Matsushita T, Kojima T, et al,. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab. Invest. 2003; 83: 115-22.
5. Han KH, Lee HK, Kang HG, et al,. Renal manifestations of patients with MYH9-related disorders. Pediatr. Nephrol. 2011; 26: 549-55.
6. Pecci A, Panza E, Moix NP, et al,. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum. Mut. 2008; 29: 409-17.
7. Dong F, Li S, Moix NP, et al,. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Brit. J. Haematol. 2005; 130: 620-7.
8. Kunishima S, Yoshinari M, Nishio H, Saito H,. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur. J. Haematol. 2007; 78: 220-6.
9. Sekine T, Konno M, Sasaki S, et al,. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010; 78: 207-14.
10. Iwai S, Hanamoto D, Chaen S,. A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II. J. Biol. Chem. 2006; 281: 30736-44.
11. Pecci A, Granata A, Fiore CE, Balduini CL,. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol. Dial. Transplant. 2008; 23: 2690-92.