title: Novel mutations in the emerin gene in Israeli families.
abstract: Emery-Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X-linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures, and cardiomyopathy, manifesting as heart block. Mutation analysis at the EMD gene locus was performed in 4 unrelated Israeli families with X-linked EMD and in one sporadic case. In the 4 families 4 different mutations were found, 3 of which were novel. These included two frame shift mutations in exon 2 (333delT and 412insA) and one base pair substitution at the consensus +1 donor splice in intron 5 (1429G-->A). The fourth mutation in exon 6 (1675-1678delTCCG) has been previously described. No mutations were identified in the one sporadic case. Two of the three novel mutations were found in exon 2. A summary of the previously published mutations described in the EMD Mutation Database (http://www.path.cam.ac.uk/emd/) as well as the mutations described in our study suggest that the distribution of mutations in EMD gene is not entirely random and that exon 2 is prone to mutations. Hum Mutat 17:522, 2001.
authors.affiliation: Pediatric Neuromuscular Service, Dana Hospital, Tel Aviv Sourasky Medical Center, Israel. nevo@tasmc.health.gov.il
authors.forename: Y
authors.initials: Y
authors.lastname: Nevo
authors.forename: S
authors.initials: S
authors.lastname: Ahituv
authors.forename: Y
authors.initials: Y
authors.lastname: Yaron
authors.forename: M
authors.initials: M
authors.lastname: Kedmi
authors.forename: R
authors.initials: R
authors.lastname: Shomrat
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: A
authors.initials: A
authors.lastname: Orr-Urtreger
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007557:Israel; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D009687:Nuclear Proteins; D017384:Sequence Deletion; D013946:Thymopoietins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D004247:DNA