IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family

Pediatric Blood and Cancer

Volumn 58, Issue 2, 2012, Pages 297-299

  Yoon, Seong Ho ^a   Cho, Taeshik ^a   Kim, Hee Jin ^b   Kim, Sun Young ^a   Ko, Jeong Hee ^a   Baek, Hey Sung ^c   Lee, Hyun Ju ^a   Lee, Chul Hoon ^d  

^a Hanyang University Medical Center   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Hallym University   (South Korea)

^d Hanyang University   (South Korea)

Author keywords

Mutation; Wiskott Aldrich syndrome; Wiskott Aldrich syndrome protein; X linked thrombocytopenia

Indexed keywords

WISKOTT ALDRICH SYNDROME PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; FAMILY STUDY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HETEROZYGOTE; HUMAN; KOREA; MALE; MOLECULAR GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KOREA; MALE; MUTATION; PEDIGREE; PROGNOSIS; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 83455166636     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23377     Document Type: Article

References (18)

1. Ochs HD, Filipovich AH, Veys P, et al. Wiskott-Aldrich syndrome: Diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant 2009; 15: 84-90.
2. Gulacsy V, Freiberger T, Shcherbina A, et al. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Mol Immunol 2011; 48: 788-792.
3. Ochs HD. Mutations of the Wiskott-Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes. Immunol Res 2009; 44: 84-88.
4. Zhang ZY, Xiao HQ, Jiang LP, et al. Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated chinese families. Pediatr Allergy Immunol 2010; 21: 522-532.
5. Thrasher AJ, Burns SO. WASP: A key immunological multitasker. Nat Rev Immunol 2010; 10: 182-192.
6. Jin YZ, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): Hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104: 4010-4019.
7. Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol 2000; 20: 477-485.
8. Strom TS. The thrombocytopenia of was: A familial form of ITP? Immunol Res 2009; 44: 42-53.
9. Pellier I, Mahlaoui N, Dupuis S, et al. Outcome of children with X-linked thrombocytopenia (XLT) mild Wiskott-Aldrich syndrome diagnosed below the age of 2 years (analysis from the CEREDIH Network). Clin Exp Immunol 2008; 154: 114-115.
10. Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 2010; 18: 42-48.
11. Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options. Blood 2010; 115: 3231-3238.
12. Zhu QL, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997; 90: 2680-2689.
13. Schwartz M, Bekassy A, Donner M, et al. Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: Identification of twelve different mutations in the WASP gene. Thromb Haemostasis 1996; 75: 546-550.
14. Fillat C, Espanol T, Oset M, et al. Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. Am J Med Genet 2001; 100: 116-121.
15. Itoh S, Nonoyama S, Morio T, et al. Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Int J Hematol 2000; 71: 79-83.
16. Notarangelo LD, Mazza C, Giliani S, et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 2002; 99: 2268-2269.
17. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004; 103: 456-464.
18. Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997; 90: 2680-2689.