Prenatal diagnosis of muscle-eye-brain disease

被引：5
作者：
Balci, Burcu
Morris-Rosendahl, Deborah J.
Celebi, Asli
Talim, Beril
Topaloglu, Haluk
Dincer, Pervin
机构：
[1] Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey
[2] Univ Freiburg, Inst Human Genet & Anthropol, Freiburg, Germany
[3] Hacettepe Univ, Fac Med, Dept Pediat Neurol, TR-06100 Ankara, Turkey
[4] Hacettepe Univ, Fac Med, Dept Pediat Pathol, TR-06100 Ankara, Turkey
来源：
PRENATAL DIAGNOSIS | 2007年 / 27卷 / 01期
关键词：
prenatal diagnosis; muscle-eye-brain disease; POMGNT1; novel mutation;
D O I：
10.1002/pd.1622
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Objectives To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. Methods Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Results Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. Conclusion We report the first case of prenatal diagnosis in MEB by molecular genetic analysis. Copyright (C) 2007 John Wiley & Sons, Ltd.
引用
收藏
页码：51 / 54
页数：4
相关论文
共 22 条
  • [1] An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
    Balci, B
    Uyanik, G
    Dincer, P
    Gross, C
    Willer, T
    Talim, B
    Haliloglu, G
    Kale, G
    Hehr, U
    Winkler, J
    Topaloglu, H
    [J]. NEUROMUSCULAR DISORDERS, 2005, 15 (04) : 271 - 275
  • [2] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    Beltran-Valero de Bernabé, D
    Currier, S
    Steinbrecher, A
    Celli, J
    van Beusekom, E
    van der Zwaag, B
    Kayserili, H
    Merlini, L
    Chitayat, D
    Dobyns, WB
    Cormand, B
    Lehesjoki, AE
    Cruces, J
    Voit, T
    Walsh, CA
    van Bokhoven, H
    Brunner, HG
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) : 1033 - 1043
  • [3] Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    Brockington, M
    Yuva, Y
    Prandini, P
    Brown, SC
    Torelli, S
    Benson, MA
    Herrmann, R
    Anderson, LVB
    Bashir, R
    Burgunder, JM
    Fallet, S
    Romero, N
    Fardeau, M
    Straub, V
    Storey, G
    Pollitt, C
    Richard, I
    Sewry, CA
    Bushby, K
    Voit, T
    Blake, DJ
    Muntoni, F
    [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (25) : 2851 - 2859
  • [4] Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
    Brockington, M
    Blake, DJ
    Prandini, P
    Brown, SC
    Torelli, S
    Benson, MA
    Ponting, CP
    Estournet, B
    Romero, NB
    Mercuri, E
    Voit, T
    Sewry, CA
    Guicheney, P
    Muntoni, F
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1198 - 1209
  • [5] Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
    Corman, B
    Avela, K
    Pihko, H
    Santavuori, P
    Talim, B
    Topaloglu, H
    de la Chapelle, A
    Lehesjoki, AE
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 126 - 135
  • [6] Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
    Cormand, B
    Pihko, H
    Bayés, M
    Valanne, L
    Santavuori, P
    Talim, B
    Gershoni-Baruch, R
    Ahmad, A
    van Bokhoven, H
    Brunner, HG
    Voit, T
    Topaloglu, H
    Dobyns, WB
    Lehesjoki, AE
    [J]. NEUROLOGY, 2001, 56 (08) : 1059 - 1069
  • [7] THE PRENATAL-DIAGNOSIS OF THE WALKER-WARBURG SYNDROME
    CROWE, C
    JASSANI, M
    DICKERMAN, L
    [J]. PRENATAL DIAGNOSIS, 1986, 6 (03) : 177 - 185
  • [8] Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome -: art. no. e61
    de Bernabé, DBV
    Voit, T
    Longman, C
    Steinbrecher, A
    Straub, V
    Yuva, Y
    Herrmann, R
    Sperner, J
    Korenke, C
    Diesen, C
    Dobyns, WB
    Brunner, HG
    van Bokhoven, H
    Brockington, M
    Muntoni, F
    [J]. JOURNAL OF MEDICAL GENETICS, 2004, 41 (05)
  • [9] de Bernabé DBV, 2003, J MED GENET, V40, P845
  • [10] MEMBRANE ORGANIZATION OF THE DYSTROPHIN-GLYCOPROTEIN COMPLEX
    ERVASTI, JM
    CAMPBELL, KP
    [J]. CELL, 1991, 66 (06) : 1121 - 1131
123