Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia

被引：9

作者：

Sandra, Mastroianno ^{[1
]}

Pia, Leone Maria ^{[2
]}

Stefano, Castellana ^{[3
]}

Pietro, Palumbo ^{[2
]}

Crociani, Paola ^{[4
]}

Aldo, Russo ^{[1
]}

Giuseppe, Di Stolfo ^{[1
]}

Massimo, Carella ^{[2
]}

机构：

[1] Fdn IRCCS Casa Sollievo Sofferenza, Cardiovasc Dept, Viale Cappuccini 1, I-71013 San Giovanni Rotondo, FG, Italy

[2] Fdn IRCCS Casa Sollievo Sofferenza, Clin Genet Unit, San Giovanni Rotondo, Italy

[3] Fdn IRCCS Casa Sollievo Sofferenza, Bioinformat Unit, San Giovanni Rotondo, Italy

[4] Fdn IRCCS Casa Sollievo Sofferenza, Neurol Unit, San Giovanni Rotondo, Italy

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 05期

关键词：

Emery-Dreifuss muscular dystrophy type 4; hypertrophic cardiomyopathy; SYNE1; mutation; NESPRIN-1; DATABASE;

D O I：

10.1002/ccr3.2140

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario.

引用

页码：1078 / 1082

页数：5

共 20 条

[11] dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
Liu, Xiaoming
Jian, Xueqiu
Boerwinkle, Eric
[J]. HUMAN MUTATION, 2011, 32 (08) : 894 - 899
[12] Clinical aspects of Emery-Dreifuss muscular dystrophy
Madej-Pilarczyk, Agnieszka
[J]. NUCLEUS, 2018, 9 (01) : 268 - 274
[13] The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, Aaron
Hanna, Matthew
Banks, Eric
Sivachenko, Andrey
Cibulskis, Kristian
Kernytsky, Andrew
Garimella, Kiran
Altshuler, David
Gabriel, Stacey
Daly, Mark
DePristo, Mark A.
[J]. GENOME RESEARCH, 2010, 20 (09) : 1297 - 1303
[14] Nesprin-1 mutations in human and murine cardiomyopathy
Puckelwartz, Megan J.
Kessler, Eric J.
Kim, Gene
DeWitt, Megan M.
Zhang, Yuan
Earley, Judy U.
Depreux, Frederic F. S.
Holaska, James
Mewborn, Stephanie K.
Pytel, Peter
McNally, Elizabeth M.
[J]. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2010, 48 (04) : 600 - 608
[15] Nesprins: from the nuclear envelope and beyond
Rajgor, Dipen
Shanahan, Catherine M.
[J]. EXPERT REVIEWS IN MOLECULAR MEDICINE, 2013, 15 : e5
[16] dbSNP: the NCBI database of genetic variation
Sherry, ST
Ward, MH
Kholodov, M
Baker, J
Phan, L
Smigielski, EM
Sirotkin, K
[J]. NUCLEIC ACIDS RESEARCH, 2001, 29 (01) : 308 - 311
[17] ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, Kai
Li, Mingyao
Hakonarson, Hakon
[J]. NUCLEIC ACIDS RESEARCH, 2010, 38 (16) : e164
[18] Nesprin 1 is critical for nuclear positioning and anchorage
Zhang, Jianlin
Felder, Amanda
Liu, Yujie
Guo, Ling T.
Lange, Stephan
Dalton, Nancy D.
Gu, Yusu
Peterson, Kirk L.
Mizisin, Andrew P.
Shelton, G. Diane
Lieber, Richard L.
Chen, Ju
[J]. HUMAN MOLECULAR GENETICS, 2010, 19 (02) : 329 - 341
[19] Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Zhang, Qiuping
Bethmann, Cornelia
Worth, Nathalie F.
Davies, John D.
Wasner, Christina
Feuer, Anja
Ragnauth, Cassandra D.
Yi, Qijian
Mellad, Jason A.
Warren, Derek T.
Wheeler, Matthew A.
Ellis, Juliet A.
Skepper, Jeremy N.
Vorgerd, Matthias
Schlotter-Weigel, Beate
Weissberg, Peter L.
Roberts, Roland G.
Wehnert, Manfred
Shanahan, Catherine M.
[J]. HUMAN MOLECULAR GENETICS, 2007, 16 (23) : 2816 - 2833
[20] Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis
Zhou, Can
Li, Chen
Zhou, Bin
Sun, Huaqin
Koullourou, Victoria
Holt, Ian
Puckelwartz, Megan J.
Warren, Derek T.
Hayward, Robert
Lin, Ziyuan
Zhang, Lin
Morris, Glenn E.
McNally, Elizabeth M.
Shackleton, Sue
Rao, Li
Shanahan, Catherine M.
Zhang, Qiuping
[J]. HUMAN MOLECULAR GENETICS, 2017, 26 (12) : 2258 - 2276

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