title: R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.
abstract: BACKGROUND
  Mutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy (DCM), conduction system defects and skeletal muscle dystrophy. Here we report a family with a mutation of the LMNA gene to identify the relationship between genotype and phenotype.
  
  
  METHODS
  All 30 members of the family underwent clinical and genetic evaluation. A mutation analysis of the LMNA gene was performed. All of the 12 exons of LMNA gene were extended with polymerase chain reaction (PCR) and the PCR products were screened for gene mutation by direct sequencing.
  
  
  RESULTS
  Ten members of the family had limb-girdle muscular dystrophy (LGMD) and 6 are still alive. Two patients suffered from DCM. Cardiac arrhythmias included atrioventricular block and atrial fibrillation; sudden death occurred in 2 patients. The pattern of inheritance was autosomal dominant. Mutation c.73C > G (R25G) in exon 1 encoding the globular domains was confirmed in all of the affected members, resulting in the conversion of arginine (Arg) to glycine (Gly).
  
  
  CONCLUSIONS
  The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.
authors.affiliation: Department of Cardiovascular Medicine, Second Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
authors.forename: Wo-liang
authors.initials: WL
authors.lastname: Yuan
authors.forename: Chun-yan
authors.initials: CY
authors.lastname: Huang
authors.forename: Jing-feng
authors.initials: JF
authors.lastname: Wang
authors.forename: Shuang-lun
authors.initials: SL
authors.lastname: Xie
authors.forename: Ru-qiong
authors.initials: RQ
authors.lastname: Nie
authors.forename: Ying-mei
authors.initials: YM
authors.lastname: Liu
authors.forename: Pin-ming
authors.initials: PM
authors.lastname: Liu
authors.forename: Shu-xian
authors.initials: SX
authors.lastname: Zhou
authors.forename: Su-qin
authors.initials: SQ
authors.lastname: Chen
authors.forename: Wei-jun
authors.initials: WJ
authors.lastname: Huang
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D005091:Exons; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation
chemical_list: D034904:Lamin Type A; C440308:lamin C