DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

Neuromuscular Disorders

Volumn 19, Issue 11, 2009, Pages 743-748

  Flanigan, Kevin M ^a   Dunn, Diane M ^a   von Niederhausern, Andrew ^a   Howard, Michael T ^a   Mendell, Jerry ^b   Connolly, Anne ^c   Saunders, Carol ^d   Modrcin, Ann ^d   Dasouki, Majed ^e   Comi, Giacomo P ^f   Del Bo, Roberto ^f   Pickart, Angela ^g   Jacobson, Richard ^g   Finkel, Richard ^h   Medne, Livija ^h   Weiss, Robert B ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN S MERCY HOSPITAL   (United States)

^e UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MILAN   (Italy)

^g Children's Hospital and Health Systems   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; Founder allele

Indexed keywords

CREATINE KINASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; ITALY; MALE; NONSENSE MUTATION; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; DYSTROPHIN; EXONS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENOME-WIDE ASSOCIATION STUDY; HUMANS; ITALY; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, DUCHENNE; NORTH AMERICA; TRYPTOPHAN; YOUNG ADULT;

EID: 70350182211     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.08.010     Document Type: Article

References (27)

1. Emery A.E. The muscular dystrophies. Lancet 359 9307 (2002) 687-695
2. Bushby K.M., and Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 240 2 (1993) 98-104
3. Saengpattrachai M., Ray P.N., Hawkins C.E., Berzen A., and Banwell B.L. Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia. Pediatr Neurol 35 2 (2006) 145-149
4. Tuffery-Giraud S., Saquet C., Thorel D., Disset A., Rivier F., Malcolm S., et al. Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet 13 12 (2005) 1254-1260
5. Deburgrave N., Daoud F., Llense S., Barbot J.C., Recan D., Peccate C., et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 28 2 (2007) 183-195
6. Dent K.M., Dunn D.M., von Niederhausern A.C., Aoyagi A.T., Kerr L., Bromberg M.B., et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 134 3 (2005) 295-298
7. Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., and Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2 1 (1988) 90-95
8. Malhotra S.B., Hart K.A., Klamut H.J., Thomas N.S., Bodrug S.E., Burghes A.H., et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242 4879 (1988) 755-759
9. Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Recan D., et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63 6 (1990) 1239-1248
10. Winnard A.V., Klein C.J., Coovert D.D., Prior T., Papp A., Snyder P., et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet 2 6 (1993) 737-744
11. Muntoni F., Gobbi P., Sewry C., Sherratt T., Taylor J., Sandhu S.K., et al. Deletions in the 5′ region of dystrophin and resulting phenotypes. J Med Genet 31 11 (1994) 843-847
12. Gangopadhyay S.B., Sherratt T.G., Heckmatt J.Z., Dubowitz V., Miller G., Shokeir M., et al. Dystrophin in frameshift deletion patients with Becker muscular dystrophy. Am J Hum Genet 51 3 (1992) 562-570
13. Winnard A.V., Mendell J.R., Prior T.W., Florence J., and Burghes A.H. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 56 1 (1995) 158-166
14. Flanigan K.M., von Niederhausern A., Dunn D.M., Alder J., Mendell J.R., and Weiss R.B. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 72 4 (2003) 931-939
15. Gurvich O.L., Maiti B., Weiss R.B., Aggarwal G., Howard M.T., and Flanigan K.M. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum Mutat 30 4 (2009) 633-640
16. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 3 (2007) 559-575
17. Miyazawa H., Kato M., Awata T., Kohda M., Iwasa H., Koyama N., et al. Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet 80 6 (2007) 1090-1102
18. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., et al. The structure of haplotype blocks in the human genome. Science 296 5576 (2002) 2225-2229
19. Kong A., Gudbjartsson D.F., Sainz J., Jonsdottir G.M., Gudjonsson S.A., Richardsson B., et al. A high-resolution recombination map of the human genome. Nat Genet 31 3 (2002) 241-247
20. Risch N., de Leon D., Ozelius L., Kramer P., Almasy L., Singer B., et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9 2 (1995) 152-159
21. Stephens J.C., Reich D.E., Goldstein D.B., Shin H.D., Smith M.W., Carrington M., et al. Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 62 6 (1998) 1507-1515
22. Slatkin M. A Bayesian method for jointly estimating allele age and selection intensity. Genet Res 90 1 (2008) 129-137
23. Lynch H.T., Coronel S.M., Okimoto R., Hampel H., Sweet K., Lynch J.F., et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 291 6 (2004) 718-724
24. Neklason D.W., Stevens J., Boucher K.M., Kerber R.A., Matsunami N., Barlow J., et al. American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 6 1 (2008) 46-52
25. Lange K., Gladstien K., and Zatz M. Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet 30 2 (1978) 180-189
26. Sabeti P.C., Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., et al. Genome-wide detection and characterization of positive selection in human populations. Nature 449 7164 (2007) 913-918
27. Nachman M.W., and Crowell S.L. Contrasting evolutionary histories of two introns of the Duchenne muscular dystrophy gene, DMD, in humans. Genetics 155 4 (2000) 1855-1864