Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome

被引：7

作者：

Abdullah, Sarah ^{[1
]}

Hawkins, Cynthia ^{[2
]}

Wilson, Gregory ^{[2
]}

Yoon, Grace ^{[3
]}

Mertens, Luc ^{[4
]}

Carter, Melissa T. ^{[5
]}

Guerin, Andrea ^{[1
,3
]}

机构：

[1] Queens Univ, Kingston Gen Hosp, Dept Pediat, Div Med Genet, Kingston, ON, Canada

[2] Hosp Sick Children, Dept Pediat Lab Med, Div Pathol, Toronto, ON, Canada

[3] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada

[4] Univ Toronto, Hosp Sick Children, Div Cardiol, Toronto, ON, Canada

[5] Childrens Hosp Eastern Ontario, Reg Genet Program, Ottawa, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 11期

关键词：

cardiomyopathy; congenital muscular dystrophy; Walker-Warburg syndrome; CONGENITAL MUSCULAR-DYSTROPHIES; MUTATION;

D O I：

10.1002/ajmg.a.38394

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Walker-Warburg syndrome (WWS) is a rare autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in -dystroglycan glycosylation have been implicated in the aetiology of WWS. We describe a patient with nonclassical features of WWS presenting with heart failure related to noncompaction cardiomyopathy resulting in death at 4 months of age. Muscle biopsy revealed absent -dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy.

引用

页码：3082 / 3086

页数：5

共 13 条

[1]

Adam MP, 2005, GeneReviews Internet

[2] DIAGNOSTIC-CRITERIA FOR WALKER-WARBURG SYNDROME [J].

DOBYNS, WB ;

PAGON, RA ;

ARMSTRONG, D ;

CURRY, CJR ;

GREENBERG, F ;

GRIX, A ;

HOLMES, LB ;

LAXOVA, R ;

MICHELS, VV ;

ROBINOW, M ;

ZIMMERMAN, RL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :195-210

[3] Cardiac Findings in Congenital Muscular Dystrophies [J].

Finsterer, Josef ;

Ramaciotti, Claudio ;

Wang, Ching H. ;

Wahbi, Karim ;

Rosenthal, David ;

Duboc, Denis ;

Melacini, Paola .

PEDIATRICS, 2010, 126 (03) :538-545

[4] Walker-Warburg syndrome: Neurologic features and muscle membrane structure [J].

Kanoff, RJ ;

Curless, RG ;

Petito, C ;

Falcone, S ;

Siatkowski, RM ;

Pegoraro, E .

PEDIATRIC NEUROLOGY, 1998, 18 (01) :76-80

[5]

Lee C., 2014, HONG KONG MED J, V20, pE4

[6] Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome [J].

Manzini, M. Chiara ;

Tambunan, Dimira E. ;

Hill, R. Sean ;

Yu, Tim W. ;

Maynard, Thomas M. ;

Heinzen, Erin L. ;

Shianna, Kevin V. ;

Stevens, Christine R. ;

Partlow, Jennifer N. ;

Barry, Brenda J. ;

Rodriguez, Jacqueline ;

Gupta, Vandana A. ;

Al-Qudah, Abdel-Karim ;

Eyaid, Wafaa M. ;

Friedman, Jan M. ;

Salih, Mustafa A. ;

Clark, Robin ;

Moroni, Isabella ;

Mora, Marina ;

Beggs, Alan H. ;

Gabriel, Stacey B. ;

Walsh, Christopher A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (03) :541-547

[7] Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy [J].

Martinez, Hugo R. ;

Craigen, William J. ;

Ummat, Monika ;

Adesina, Adekunle M. ;

Lotze, Timothy E. ;

Jefferies, John L. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) :486-491

[8] Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy [J].

Mostacciuolo, ML ;

Miorin, M ;

Martinello, F ;

Angelini, C ;

Perini, P ;

Trevisan, CP .

HUMAN GENETICS, 1996, 97 (03) :277-279

[9] Cardiac involvement in Fukuyama-type congenital muscular dystrophy [J].

Nakanishi, Toshio ;

Sakauchi, Masako ;

Kaneda, Yoshio ;

Tomimatsu, Hirofumi ;

Saito, Kayoko ;

Nakazawa, Makoto ;

Osawa, Makiko .

PEDIATRICS, 2006, 117 (06) :E1187-E1192

[10] Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency [J].

Pane, M. ;

Messina, S. ;

Vasco, G. ;

Foley, A. R. ;

Morandi, L. ;

Pegoraro, E. ;

Mongini, T. ;

D'Amico, A. ;

Bianco, F. ;

Lombardo, M. E. ;

Scalise, R. ;

Bruno, C. ;

Berardinelli, A. ;

Pini, A. ;

Moroni, I. ;

Mora, M. ;

Toscano, A. ;

Moggio, M. ;

Comi, G. ;

Santorelli, F. M. ;

Bertini, E. ;

Muntoni, F. ;

Mercuri, E. .

NEUROMUSCULAR DISORDERS, 2012, 22 (08) :685-689

← 1 2 →