Contractures and Hypertrophic Cardiomyopathy in a Novel FHL1 Mutation

被引：50

作者：

Knoblauch, Hans ^{[1
]}

Geier, Christian ^{[2
]}

Adams, Stephanie ^{[1
]}

Budde, Birgit ^{[3
]}

Rudolph, Andre ^{[4
]}

Zacharias, Ute ^{[1
]}

Schulz-Menger, Jeannette ^{[4
]}

Spuler, Andreas ^{[5
]}

Ben Yaou, Rabah ^{[6
]}

Nuernberg, Peter ^{[3
]}

Voit, Thomas ^{[6
]}

Bonne, Gisele ^{[6
]}

Spuler, Simone ^{[1
]}

机构：

[1] Charite, Muscle Res Unit, Expt & Clin Res Ctr, D-13125 Berlin, Germany

[2] Charite, Dept Cardiol, Virchow Klinikum, D-13125 Berlin, Germany

[3] Cologne Ctr Genom, Cologne, Germany

[4] HELIOS Klin, Dept Cardiol, Berlin, Germany

[5] HELIOS Klin, Dept Neurosurg, Berlin, Germany

[6] Univ Paris 06, Inst Myol, Paris, France

来源：

ANNALS OF NEUROLOGY | 2010年 / 67卷 / 01期

关键词：

DREIFUSS MUSCULAR-DYSTROPHY; MYOPATHY; MUSCLE; IDENTIFICATION;

D O I：

10.1002/ana.21839

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes. ANN NEUROL 2010;67:136-140

引用

页码：136 / 140

页数：5

共 10 条

[1]

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].

Bonne, G ;

Di Barletta, MR ;

Varnous, S ;

Bécane, HM ;

Hammouda, EH ;

Merlini, L ;

Muntoni, F ;

Greenberg, CR ;

Gary, F ;

Urtizberea, JA ;

Duboc, D ;

Fardeau, M ;

Toniolo, D ;

Schwartz, K .

NATURE GENETICS, 1999, 21 (03) :285-288

[2]

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy [J].

Cowling, Belinda S. ;

McGrath, Meagan J. ;

Nguyen, Mai-Anh ;

Cottle, Denny L. ;

Kee, Anthony J. ;

Brown, Susan ;

Schessl, Joachim ;

Zou, Yaqun ;

Joya, Josephine ;

Boennemann, Carsten G. ;

Hardeman, Edna C. ;

Mitchell, Christina A. .

JOURNAL OF CELL BIOLOGY, 2008, 183 (06) :1033-1048

[3]

Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-β-like signaling pathway [J].

Ding, Lihua ;

Wang, Zhaoyun ;

Yan, Jinghua ;

Yang, Xiao ;

Liu, Aijun ;

Qiu, Weiyi ;

Zhu, Jianhua ;

Han, Juqiang ;

Zhang, Hao ;

Lin, Jing ;

Cheng, Long ;

Qin, Xi ;

Niu, Chang ;

Yuan, Bin ;

Wang, Xiaohui ;

Zhu, Cui ;

Zhou, Yan ;

Li, Jiezhi ;

Song, Haifeng ;

Huang, Cuifen ;

Ye, Qinong .

JOURNAL OF CLINICAL INVESTIGATION, 2009, 119 (02) :349-361

[4]

Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy [J].

Geier, Christian ;

Gehmlich, Katja ;

Ehler, Elisabeth ;

Hassfeld, Sabine ;

Perrot, Andreas ;

Hayess, Katrin ;

Cardim, Nuno ;

Wenzel, Katrin ;

Erdmann, Bettina ;

Krackhardt, Florian ;

Posch, Maximilian G. ;

Bublak, Angelika ;

Naegele, Herbert ;

Scheffold, Thomas ;

Dietz, Rainer ;

Chien, Kenneth R. ;

Spuler, Simone ;

Fuerst, Dieter O. ;

Nuernberg, Peter ;

Oezcelik, Cemil .

HUMAN MOLECULAR GENETICS, 2008, 17 (18) :2753-2765

[5]

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-Half-LIM protein 1 [J].

Quinzi, Catarina M. ;

Vu, Tuan H. ;

Min, K. Christopher ;

Tanji, Kurenai ;

Barral, Sandra ;

Grewal, Raji P. ;

Kattah, Andrea ;

Camano, Pilir ;

Otaegui, David ;

Kunimatsu, Teruhito ;

Blake, David M. ;

Wilhelmsen, Kirk C. ;

Rowland, Lewis P. ;

Hays, Arthur P. ;

Bonilla, Eduardo ;

Hirano, Michio .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :208-213

[6]

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy [J].

Schessl, Joachim ;

Zou, Yaqun ;

McGrath, Meagan J. ;

Cowling, Belinda S. ;

Maiti, Baijayanta ;

Chin, Steven S. ;

Sewry, Caroline ;

Battini, Roberta ;

Hu, Ying ;

Cottle, Denny L. ;

Rosenblatt, Michael ;

Spruce, Lynn ;

Ganguly, Arupa ;

Kirschner, Janbernd ;

Judkins, Alexander R. ;

Golden, Jeffrey A. ;

Goebel, Hans-Hilmar ;

Muntoni, Francesco ;

Flanigan, Kevin M. ;

Mitchell, Christina A. ;

Bonnemann, Carsten G. .

JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (03) :904-912

[7]

Molecular dissection of a LIM domain [J].

Schmeichel, KL ;

Beckerle, MC .

MOLECULAR BIOLOGY OF THE CELL, 1997, 8 (02) :219-230

[8]

Muscle and nerve pathology in Dunnigan familial partial lipodystrophy [J].

Spuler, S. ;

Kalbhenn, T. ;

Zabojszcza, J. ;

van Landeghem, F. K. H. ;

Ludtke, A. ;

Wenzel, K. ;

Koehnlein, M. ;

Schuelke, M. ;

Luedemann, L. ;

Schmidt, H. H. .

NEUROLOGY, 2007, 68 (09) :677-683

[9]

EMERY-DREIFUSS MUSCULAR-DYSTROPHY - DISEASE SPECTRUM AND DIFFERENTIAL-DIAGNOSIS [J].

VOIT, T ;

KROGMANN, O ;

LENARD, HG ;

NEUENJACOB, E ;

WECHSLER, W ;

GOEBEL, HH ;

RAHLF, G ;

LINDINGER, A ;

NIENABER, C .

NEUROPEDIATRICS, 1988, 19 (02) :62-71

[10]

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 [J].

Windpassinger, Christian ;

Schoser, Benedikt ;

Straub, Volker ;

Hochmeister, Sonja ;

Noor, Abdul ;

Lohberger, Birgit ;

Farra, Natalie ;

Petek, Erwin ;

Schwarzbraun, Thomas ;

Ofner, Lisa ;

Loescher, Wolfgang N. ;

Wagner, Klaus ;

Lochmueller, Hanns ;

Vincent, John. B. ;

Quasthoff, Stefan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :88-99

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