BACKGROUND: The STA gene encodes emerin and is one of the genes that is affected in Emery-Dreifuss muscular dystrophy (EDMD). Although it has been reported that EDMD caused by the STA gene mutation is associated with X-linked recessive inheritance, the genotype-phenotype correlations, with special reference to cardiac manifestations, are not well defined. METHODS AND RESULTS: We identified 16 carriers (7 male and 9 female) with a nonsense mutation in exon 6 of the STA gene in 2 EDMD families. Pacemakers were required for treatment of bradyarrhythmias in all 7 male carriers and in 2 of the 9 female carriers. In addition, 2 of the 9 female carriers displayed atrial fibrillation. In these 2 families, 3 males without pacemaker implantation, who were not tested genetically, had died suddenly. In these family members, the majority of carriers with the mutation had not been clinically diagnosed as having EDMD before genetic testing because of extremely mild or nonexistent skeletal myopathy. CONCLUSIONS: EDMD caused by this mutation is characterized by atypical clinical features and incomplete penetrance of the clinical phenotype and may result in serious cardiac complications, including sudden death. Approaches to preventing possible sudden death in carriers with the STA gene mutation require further study.
BACKGROUND: The STA gene encodes emerin and is one of the genes that is affected in Emery-Dreifuss muscular dystrophy (EDMD). Although it has been reported that EDMD caused by the STA gene mutation is associated with X-linked recessive inheritance, the genotype-phenotype correlations, with special reference to cardiac manifestations, are not well defined. METHODS AND RESULTS: We identified 16 carriers (7 male and 9 female) with a nonsense mutation in exon 6 of the STA gene in 2 EDMD families. Pacemakers were required for treatment of bradyarrhythmias in all 7 male carriers and in 2 of the 9 female carriers. In addition, 2 of the 9 female carriers displayed atrial fibrillation. In these 2 families, 3 males without pacemaker implantation, who were not tested genetically, had died suddenly. In these family members, the majority of carriers with the mutation had not been clinically diagnosed as having EDMD before genetic testing because of extremely mild or nonexistent skeletal myopathy. CONCLUSIONS: EDMD caused by this mutation is characterized by atypical clinical features and incomplete penetrance of the clinical phenotype and may result in serious cardiac complications, including sudden death. Approaches to preventing possible sudden death in carriers with the STA gene mutation require further study.
Authors: Lucie Gueneau; Anne T Bertrand; Jean-Philippe Jais; Mustafa A Salih; Tanya Stojkovic; Manfred Wehnert; Maria Hoeltzenbein; Simone Spuler; Shinji Saitoh; Annie Verschueren; Christine Tranchant; Maud Beuvin; Emmanuelle Lacene; Norma B Romero; Simon Heath; Diana Zelenika; Thomas Voit; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne Journal: Am J Hum Genet Date: 2009-08-27 Impact factor: 11.025
Authors: Rebekah S Zimmerman; Stephanie Cox; Neal K Lakdawala; Allison Cirino; Debora Mancini-DiNardo; Eugene Clark; Annette Leon; Elizabeth Duffy; Emily White; Samantha Baxter; Manal Alaamery; Lisa Farwell; Scott Weiss; Christine E Seidman; Jonathan G Seidman; Carolyn Y Ho; Heidi L Rehm; Birgit H Funke Journal: Genet Med Date: 2010-05 Impact factor: 8.822
Authors: Vincenzo Russo; Anna Rago; Luisa Politano; Andrea Antonio Papa; Federica Di Meo; Maria Giovanna Russo; Paolo Golino; Raffaele Calabrò; Gerardo Nigro Journal: Med Sci Monit Date: 2012-11