The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
In 2004, Anderson et al. reported a homozygous 2502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy. We determined the occurrence of this deletion in a world-wide series of 355 nemaline myopathy probands with no previously known mutation in other genes and found the mutation in 14 probands, two of whom represented families previously ascertained by Anderson et al. Two of the families were not of known Ashkenazi Jewish descent but they had the haplotype known to segregate with this mutation. In all but two of eight homozygous patients, the clinical picture was more severe than in typical nemaline myopathy.
Lehtokari
Vilma-Lotta
VL
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Greenleaf
Rebecca S
RS
DeChene
Elizabeth T
ET
Kellinsalmi
Mutsumi
M
Pelin
Katarina
K
Laing
Nigel G
NG
Beggs
Alan H
AH
Wallgren-Pettersson
Carina
C
D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D014943:Global Health; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007585:Jews / Q000208:ethnology / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000208:ethnology / Q000235:genetics*
D009124:Muscle Proteins; C035620:nebulin