title: Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
abstract: Nemaline myopathy (NM) is a neuromuscular disorder that is clinically diverse and can be attributed to mutations in any of several genes. The Ashkenazi Jewish population, which represents a relatively genetically homogeneous group, has an increased frequency of several genetic disorders and has been the beneficiary of genetic screening programs that have reduced the incidence of these diseases. The identification of individuals with NM in this population has prompted a study of its cause. Our study has revealed that five NM patients from five families bear an identical 2,502-bp deletion that lies in the nebulin gene and that includes exon 55 and parts of introns 54 and 55. The absence of this exon results in the generation of a transcript that encodes 35 fewer amino acids. An analysis of the gene frequency of this mutation in a random sample of 4,090 Ashkenazi Jewish individuals has revealed a carrier frequency of one in 108.
authors.affiliation: Department of Biological Sciences, Fordham University, Larkin Hall 160, Bronx, NY 10458, USA.
authors.forename: Sylvia L
authors.initials: SL
authors.lastname: Anderson
authors.forename: Josef
authors.initials: J
authors.lastname: Ekstein
authors.forename: Mary C
authors.initials: MC
authors.lastname: Donnelly
authors.forename: Erin M
authors.initials: EM
authors.lastname: Keefe
authors.forename: Nicole R
authors.initials: NR
authors.lastname: Toto
authors.forename: Lauretta A
authors.initials: LA
authors.lastname: LeVoci
authors.forename: Berish Y
authors.initials: BY
authors.lastname: Rubin
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D009124:Muscle Proteins; C035620:nebulin