Mosaicism in men in hemophilia: Is it exceptional? Impact on genetic counselling

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 2, 2009, Pages 367-369

  Costa, Catherine ^a,b   Frances, A M ^c   Letourneau, S ^a,b   Girodon Boulandet, E ^a,b   Goossens, M ^a,b  

^a HENRI MONDOR HOSPITAL   (France)

^b UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^c Centre Hospitalier Intercommunal Toulon La Seyne sur Mer   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 8C;

BLOOD ANALYSIS; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; KARYOTYPING; KLINEFELTER SYNDROME; LETTER; LINKAGE ANALYSIS; MALE; MOSAICISM; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION;

EID: 59049105299     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03246.x     Document Type: Letter

References (9)

1. HAMSTeRS haemophilia A Mutation database. http://europium.csc.mrc.ac.uk/; accessed 18 December 2008.
2. Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic mosaicism in hemophilia A: A fairly common event. Am J Hum Genet 2001; 69: 75-87.
3. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: A review. Hum Mutat 2001; 17: 439-74.
4. Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13: 90-2.
5. Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia 2006; 12: 82-89.
6. Oldenburg J, Ros S, El-Maarri O, Leuer M, Olek K, Müller CR, Schwaab R. De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 2000; 96: 2905-2906.
7. Casey GJ, Rodgers SE, Hall JR, Rudzki Z, Lloyd JV. Grandpaternal mosaicism in a family with isolated haemophilia A. Br J Haematol 1999; 107: 560-2.
8. Lebo RV, Koerper MA, Kim JH, Chueh J, Golbus MS. Prenatal diagnosis of hemophilia involving grandpaternal mosaicism. Am J Med Genet 1993; 47: 401-4.
9. Cutler JA, Mitchell MJ, Smith MP, Savidge GF. Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. Am J Med Genet A 2004; 129: 13-5.