VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene

被引：0

作者：

Cox, PM

Gibson, RA

Morgan, N

Brueton, LA

机构：

[1] UMDS,GUYS HOSP,DIV MED & MOL GENET,LONDON,ENGLAND

[2] NORTHWICK PK HOSP & CLIN RES CTR,KENNEDY GALTON CTR,HARROW HA1 3UJ,MIDDX,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 68卷 / 01期

关键词：

Fanconi anemia; VACTERL; hydrocephalus;

D O I：

10.1002/(SICI)1096-8628(19970110)68:1<86::AID-AJMG17>3.0.CO;2-K

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia. (C) 1997 Wiley-Liss, Inc.

引用

页码：86 / 90

页数：5

共 12 条

[11] A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia
Borriello, A.
Locasciulli, A.
Bianco, A. M.
Criscuolo, M.
Conti, V.
Grammatico, P.
Cappellacci, S.
Zatterale, A.
Morgese, F.
Cucciolla, V.
Delia, D.
Della Ragione, F.
Savoia, A.
LEUKEMIA, 2007, 21 (01) : 72 - 78
[12] Frequency Determination of c.1115_1118delTTGG and c.3788_3790delTCT FANCA Gene Mutation in North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi's Anemia Population
Ayaz, Kinza
Khan, Adnan
Arabdin, Maria
Masood, Tariq
Taj, Abid Sohail
Ayaz, Maaz
IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2022, 12 (03) : 164 - 173

← 1 2 →