Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation

被引：29

作者：

Bennett, Carolyn M. ^{[1
,2
,3
]}

Boye, Eileen ^{[4
]}

Neufeld, Ellis J. ^{[1
,2
,3
]}

机构：

[1] Childrens Hosp, Div Hematol, Div Hematol Oncol, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Div Pediat Hematol Oncol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[4] Harvard Univ, Sch Dent Med, Dept Dev Biol, Boston, MA 02115 USA

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2008年 / 83卷 / 10期

关键词：

D O I：

10.1002/ajh.21219

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe monozygotic female twins discordant for hemophilia A, born to a carrier mother and normal father. Affected twin A presented at age 1 year with excessive bruising and factor VIII procoagulant activity (FVIII:C) of less than 1% of normal. Twin B is an asymptomatic carrier with FVIII:C level of 42%. Peripheral blood DNA was tested for X-chromosome inactivation (methylation) patterns of the X-linked human androgen receptor gene, comparing the twins' patterns to parental. Twin A showed nonrandom inactivation skewed toward the paternal X, whereas twin B showed random X-inactivation. This is the first reported case of discordance for hemophilia A between female monozygotic twins.

引用

页码：778 / 780

页数：3

共 18 条

[1] ALLEN RC, 1992, AM J HUM GENET, V51, P1229
[2] INHERITED BLEEDING SYNDROMES IN IRAQ
ALMONDHIRY, HAB
[J]. THROMBOSIS AND HAEMOSTASIS, 1977, 37 (03) : 549 - 555
[3] Clonality and altered behavior of endothelial cells from hemangiomas
Boye, E
Yu, Y
Paranya, G
Mulliken, JB
Olsen, BR
Bischoff, J
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2001, 107 (06) : 745 - 752
[4] Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII
Cai, X. -H.
Wang, X. -F.
Dai, J.
Fang, Y.
Ding, Q. -L.
Xie, F.
Wang, H. -L.
[J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2006, 4 (09) : 1969 - 1974
[5] X chromosome-inactivation patterns confirm the late timing of monoamniotic-MZ twinning
Chitnis, S
Derom, C
Vlietinck, R
Derom, R
Monteiro, J
Gregersen, PK
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) : 570 - 571
[6] Chuansumrit A, 1999, THROMB HAEMOSTASIS, V82, P1379
[7] Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles
David, D
Morais, S
Ventura, C
Campos, M
[J]. HAEMOPHILIA, 2003, 9 (01) : 125 - 130
[8] Lesch-Nyhan disease in a female with a clinically normal monozygotic twin
De Gregorio, L
Jinnah, HA
Harris, JC
Nyhan, WL
Schretlen, DJ
Trombley, LM
O'Neill, JP
[J]. MOLECULAR GENETICS AND METABOLISM, 2005, 85 (01) : 70 - 77
[9] Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
Favier, R
Lavergne, JM
Costa, JM
Garon, C
Mazurier, C
Viémont, M
Delpech, M
Valleix, S
[J]. BLOOD, 2000, 96 (13) : 4373 - 4375
[10] JORGENSEN AL, 1992, AM J HUM GENET, V51, P291

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