A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

被引：4

作者：

Costa, C. ^{[1
,2
]}

Oliveira, J. ^{[3
]}

Goncalves, A. ^{[3
]}

Santos, R. ^{[3
,4
]}

Bronze-da-Rocha, E. ^{[4
]}

Rebelo, O. ^{[2
,5
]}

Pais, R. P. ^{[2
,6
]}

Fineza, I. ^{[1
,2
]}

机构：

[1] Ctr Hosp Coimbra, Ctr Desenvolvimento Crianca Dr Luis Borges, Unidade Doencas Neuromusculares, Hosp Pediat Coimbra, Coimbra, Portugal

[2] Univ Coimbra, Coimbra, Portugal

[3] Inst Nacl Saude Dr Ricardo Jorge, Ctr Genet Med Dr Jacinto Magalhaes, Unidade Invest & Desenvolvimento, IP, Oporto, Portugal

[4] Univ Porto, Dept Ciencias Biol, Lab Bioquim, Fac Farm, P-4100 Oporto, Portugal

[5] Ctr Hosp Coimbra, Serv Neurol, Lab Neuropatol, Coimbra, Portugal

[6] Ctr Hosp Coimbra, Serv Neurorradiol, Hosp Pediat Coimbra, Coimbra, Portugal

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 07期

关键词：

Duplication; Fukutin; FKTN; Fukuyama congenital muscular; Dystrophy; alpha-Dystroglycanopathies; WALKER-WARBURG-SYNDROME; DEFECTIVE GLYCOSYLATION; ABNORMAL GLYCOSYLATION; MUTATIONS; GENOTYPE; FORM;

D O I：

10.1016/j.nmd.2013.03.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder mutation of the fukutin gene (FKTN). Mutations in FKTN are now being described in an increasing number of non-Japanese patients. We report a Portuguese child with FCMD. The diagnosis was supported by clinical, histological, magnetic resonance imaging (MRI) and genetic studies. Genetic analysis of FKTN by Multiplex Ligation Probe Amplification (MLPA) revealed a homozygous duplication from exon 4 to exon 7. This in-frame duplication was confirmed by cDNA analysis. To our knowledge this is the first report of a FCMD case caused by an intragenic gross exonic duplication in the FKTN gene. This report widens the clinical and mutational spectrum in FCMD and corroborates the importance of screening for large deletions and duplications in CMD patients. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：557 / 561

页数：5

共 27 条

[1]

AIDA N, 1994, AM J NEURORADIOL, V15, P1755

[2]

Beltran-Valero D, 2002, AM J HUM GENET, V71, P165

[3] 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 [J].

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 .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1198-1209

[4] Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome [J].

Cotarelo, R. P. ;

Valero, M. C. ;

Prados, B. ;

Pena, A. ;

Rodriguez, L. ;

Fano, O. ;

Marco, J. J. ;

Martinez-Frias, M. L. ;

Cruces, J. .

CLINICAL GENETICS, 2008, 73 (02) :139-145

[5]

de Bernabé DBV, 2003, J MED GENET, V40, P845

[6]

FUKUYAMA Y, 1981, BRAIN DEV-JPN, V3, P1

[7] Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan [J].

Godfrey, Caroline ;

Clement, Emma ;

Mein, Rachael ;

Brockington, Martin ;

Smith, Janine ;

Talim, Beril ;

Straub, Volker ;

Robb, Stephanie ;

Quinlivan, Ros ;

Feng, Lucy ;

Jimenez-Mallebrera, Cecilia ;

Mercuri, Eugenio ;

Manzur, AdnanY. ;

Kinali, Maria ;

Torelli, Silvia ;

Brown, Susan C. ;

Sewry, Caroline A. ;

Bushby, Kate ;

Topaloglu, Haluk ;

North, Kathryn ;

Abbs, Stephen ;

Muntoni, Francesco .

BRAIN, 2007, 130 :2725-2735

[8] Roles of Fukutin, the Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy, in Neurons: Possible Involvement in Synaptic Function and Neuronal Migration [J].

Hiroi, Atsuko ;

Yamamoto, Tomoko ;

Shibata, Noriyuki ;

Osawa, Makiko ;

Kobayashi, Makio .

ACTA HISTOCHEMICA ET CYTOCHEMICA, 2011, 44 (02) :91-101

[9] MRI of disseminated developmental dysmyelination in fukuyama type of CMD [J].

Kato, T ;

Funahashi, M ;

Matsui, A ;

Takashima, S ;

Suzuki, Y .

PEDIATRIC NEUROLOGY, 2000, 23 (05) :385-388

[10] An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy [J].

Kobayashi, K ;

Nakahori, Y ;

Miyake, M ;

Matsumura, K ;

Kondo-Iida, E ;

Nomura, Y ;

Segawa, M ;

Yoshioka, M ;

Saito, K ;

Osawa, K ;

Hamano, K ;

Sakakihara, Y ;

Nonaka, I ;

Nakagome, Y ;

Kanazawa, I ;

Nakamura, Y ;

Tokunaga, K ;

Toda, T .

NATURE, 1998, 394 (6691) :388-392

← 1 2 3 →