Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

被引：4

作者：

Fadiloglu, Erdem ^{[1
]}

Ozten, Gonca ^{[1
]}

Unal, Canan ^{[1
]}

Talim, Beril ^{[2
]}

Topaloglu, Haluk ^{[3
]}

Beksac, Mehmet Sinan ^{[1
]}

机构：

[1] Dept Obstet & Gynecol, Div Perinatol, Ankara, Turkey

[2] Dept Pediat, Div Pediat Pathol, Ankara, Turkey

[3] Hacettepe Univ, Dept Pediat, Div Pediat Neurol, Med Fac, Ankara, Turkey

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2018年 / 37卷 / 06期

关键词：

Merosin deficient muscular dystrophy; prenatal diagnosis; chorion villus sampling; immunohistochemistry; LAMININ ALPHA-2 CHAIN; LAMA2; MUTATIONS; IDENTIFICATION; EXPRESSION; PHENOTYPE;

D O I：

10.1080/15513815.2018.1520944

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Goal: We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry. Materials and Methods: This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child. Chorionic villus sampling (CVS) was performed between 11th to 13th gestational weeks. Merosin immunohistochemical studies were performed on trophoblastic cells. Results: Two of 12 were "merosin-negative," both were from the same family. Fetal ultrasonographies were evaluated as normal in these pregnancies. Eight of the 10 merosin-positive cases delivered healthy babies. Two were lost to follow-up. Conclusion: Prenatal diagnosis of merosin-negative muscular dystrophies can be accomplished by immunohistochemical analysis.

引用

页码：418 / 423

页数：6

共 21 条

[11] Laminin α2 deficient congenital muscular dystrophy:: prenatal diagnosis [J].

Nass, D ;

Goldberg, I ;

Sadeh, M .

EARLY HUMAN DEVELOPMENT, 1999, 55 (01) :19-24

[12]

Nissinen M, 1996, AM J HUM GENET, V58, P1177

[13] LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes [J].

Oliveira, Jorge ;

Gruber, Angela ;

Cardoso, Marcio ;

Taipa, Ricardo ;

Fineza, Isabel ;

Goncalves, Ana ;

Laner, Andreas ;

Winder, Thomas L. ;

Schroeder, Jocelyn ;

Rath, Julie ;

Oliveira, Marcia E. ;

Vieira, Emilia ;

Sousa, Ana Paula ;

Vieira, Jose Pedro ;

Lourenco, Teresa ;

Almendra, Luciano ;

Negrao, Luis ;

Santos, Manuela ;

Melo-Pires, Manuel ;

Coelho, Teresa ;

den Dunnen, Johan T. ;

Santos, Rosario ;

Sousa, Mario .

HUMAN MUTATION, 2018, 39 (10) :1314-1337

[14] Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain [J].

Sewry, CA ;

Naom, I ;

DAlessandro, M ;

Sorokin, L ;

Bruno, S ;

Wilson, LA ;

Dubowitz, V ;

Muntoni, F .

NEUROMUSCULAR DISORDERS, 1997, 7 (03) :169-175

[15] Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy [J].

Sewry, CA ;

DAlessandro, M ;

Wilson, LA ;

Sorokin, LM ;

Naom, I ;

Bruno, S ;

Ferlini, A ;

Dubowitz, V ;

Muntoni, F .

NEUROPEDIATRICS, 1997, 28 (04) :217-222

[16] Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene [J].

Turner, Clinton ;

Mein, Rachael ;

Sharpe, Cynthia ;

Love, Donald R. .

JOURNAL OF CLINICAL NEUROSCIENCE, 2015, 22 (12) :1983-1985

[17] Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy:: A collective experience of five international centers [J].

Vainzof, M ;

Richard, P ;

Herrmann, R ;

Jimenez-Mallebrera, C ;

Talim, B ;

Yamamoto, LU ;

Ledeuil, C ;

Mein, R ;

Abbs, S ;

Brockington, M ;

Romero, NB ;

Zatz, M ;

Topaloglu, H ;

Voit, T ;

Sewry, C ;

Muntoni, F ;

Guicheney, P ;

Tomé, FMS .

NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) :588-594

[18] PRENATAL DETECTION OF MEROSIN EXPRESSION IN HUMAN PLACENTA [J].

VOIT, T ;

FARDEAU, M ;

TOME, FMS .

NEUROPEDIATRICS, 1994, 25 (06) :332-333

[19] Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients [J].

Xiong, H. ;

Tan, D. ;

Wang, S. ;

Song, S. ;

Yang, H. ;

Gao, K. ;

Liu, A. ;

Jiao, H. ;

Mao, B. ;

Ding, J. ;

Chang, X. ;

Wang, J. ;

Wu, Y. ;

Yuan, Y. ;

Jiang, Y. ;

Zhang, F. ;

Wu, H. ;

Wu, X. .

CLINICAL GENETICS, 2015, 87 (03) :233-243

[20] Structure of the human laminin alpha 2-chain gene (LAMA2), which is affected in congenital muscular dystrophy [J].

Zhang, X ;

Vuolteenaho, R ;

Tryggvason, K .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (44) :27664-27669

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