Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age (European Journal of Human Genetics (2013) 21 (855-863) DOI: 10.1038/ejhg.2012.269);Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

European Journal of Human Genetics

Volumn 21, Issue 8, 2013, Pages 855-863

  Mercier, Sandra ^a,b   Toutain, Annick ^c   Toussaint, Aurélie ^b   Raynaud, Martine ^c   De Barace, Claire ^d   Marcorelles, Pascale ^e   Pasquier, Laurent ^f   Blayau, Martine ^g   Pénisson Besnier, Isabelle ^h   Romero, Norma ⁱ   Espil, Caroline ^j   Parent, Philippe ^k   Journel, Hubert ^l   Lazaro, Leila ^l   Andoni Urtizberea, Jon ^m   Moerman, Alexandre ⁿ   Faivre, Laurence ^o   Eymard, Bruno ⁱ   Maincent, Kim ^p   Gherardi, Romain ^q   Chaigne, Denys ^r   Ben Yaou, Rabah ^b   Leturcq, France ^b   Chelly, Jamel ^b   Desguerre, Isabelle ^b,s   more..

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Centre de Pediatrie Clocheville   (France)

^d Hopital Yves Le Foll   (France)

^e BREST UNIVERSITY HOSPITAL   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^h ANGERS UNIVERSITY HOSPITAL   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j HÔPITAL PELLEGRIN   (France)

^k CHU MORVAN   (France)

^l CH Vannes ^*  (France)

^m ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁿ LILLE UNIVERSITY HOSPITAL   (France)

^o DIJON UNIVERSITY HOSPITAL   (France)

^p ARMAND TROUSSEAU HOSPITAL   (France)

^q HENRI MONDOR HOSPITAL   (France)

^r UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^s HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

Dystrophin; Female carrier; X inactivation

Indexed keywords

DNA; DYSTROPHIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE CARRIER; DNA EXTRACTION; DYSTROPHINOPATHY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCULAR DYSTROPHY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME INACTIVATION;

EID: 84880922109     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.74     Document Type: Erratum

References (44)

1. Emery AE: The muscular dystrophies. Lancet 2002; 359: 687-695
2. Desguerre I, Christov C, Mayer M et al: Clinical heterogeneity of duchenne muscular dystrophy (DMD): Definition of sub-phenotypes and predictive criteria by long-Term follow-up. PLoS One 2009; 4: E4347
3. Pegoraro E, Hoffman EP, Piva L et al: SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76: 219-226
4. Hoogerwaard EM, van der Wouw PA, Wilde AA et al: Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999; 9: 347-351
5. Kamakura K, Kawai M, Arahata K, Koizumi H, Watanabe K, Sugita H: A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 1990; 237: 483-485
6. Politano L, Nigro V, Nigro G et al: Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996; 275: 1335-1338
7. Nolan MA, Jones OD, Pedersen RL, Johnston HM: Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003; 13: 129-132
8. Grain L, Cortina-Borja M, Forfar C, Hilton-Jones D, Hopkin J, Burch M: Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001; 11: 186-191
9. Hoogerwaard EM, Ginjaar IB, Bakker E, de Visser M: Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology 2005; 65: 1984-1986
10. Saillour Y, Cossée M, Leturcq F et al: Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-Array method. Hum Mutat 2008; 29: 1083-1090
11. Richards CS, Watkins SC, Hoffman EP et al: Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990; 46: 672-681
12. Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG: Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 1991; 40: 354-364
13. Abbadi N, Philippe C, Chery M et al: Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet 1994; 52: 198-206
14. Matthews PM, Benjamin D, Van Bakel I et al: Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995; 5: 209-220
15. Yoshioka M, Yorifuji T, Mituyoshi I: Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 1998; 53: 102-107
16. Lesca G, Demarquay G, Llense S et al: [Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]. Rev Neurol (Paris) 2003; 159: 775-780
17. Sewry CA, Sansome A, Clerk A et al: Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness. Neuromuscul Disord 1993; 3: 141-148
18. Tihy F, Vogt N, Recan D et al: Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994; 93: 563-567
19. Soltanzadeh P, Friez MJ, Dunn D et al: Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010; 20: 499-504
20. Sumita DR, Vainzof M, Campiotto S et al: Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998; 80: 356-361
21. Wechsler D: WPPSI-R Manual: Wechsler Preschool and Primary Scale of Intelligence-Revised 1989
22. Wechsler D: WISC III Manual: Wechsler Scale Intelligence for Children 1991
23. Romero NB, De Lonlay P, Llense S et al: Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene. Neuromuscul Disord 2001; 11: 494-498
24. Deburgrave N, Daoud F, Llense S 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 2007; 28: 183-195
25. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239
26. Taylor PJ, Betts GA, Maroulis S et al: Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010; 5: E8803
27. Azofeifa J, Voit T, Hubner C, Cremer M: X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995; 96: 167-176
28. Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner-Medwin D: Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993; 3: 57-64
29. Pegoraro E, Schimke RN, Arahata K et al: Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994; 54: 989-1003
30. Seemann N, Selby K, McAdam L et al: Symptomatic dystrophinopathies in female children. Neuromuscul Disord 2011; 21: 172-177
31. Leonard H, Wen X: The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117-134
32. Song TJ, Lee KA, Kang SW, Cho H, Choi YC: Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J 2011; 52: 192-5
33. Pikó H, Vancsó V, Nagy B, Bán Z, Herczegfalvi A, Karcagi V: Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families-detection of carrier status in symptomatic and asymptomatic female relatives. Neuromuscul Disord 2009; 19: 108-12
34. Ceulemans BP, Storm K, Reyniers Jr. E et al: Muscle pain as the only presenting symptom in a girl with dystrophinopathy. Pediatr Neurol 2008; 38: 64-6
35. Ogata H, Nakagawa H, Hamabe K et al: A female carrier of Duchenne muscular dystrophy complicated with cardiomyopathy. Intern Med 2000; 39: 34-8
36. Doriguzzi C, Palmucci L, Mongini T et al: Variable histological expression of dystrophinopathy in two females. Acta Neuropathol 1999; 97: 657-60
37. Pegoraro E, Schimke RN, Garcia C et al: Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995; 45: 677-690
38. Hoffman EP, Pegoraro E, Scacheri P et al: Genetic counseling of isolated carriers of Duchenne muscular dystrophy. Am J Med Genet 1996; 63: 573-80
39. Tuffery-Giraud S, Beroud C, Leturcq F et al: Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase. Hum Mutat 2009; 30: 934-945
40. White S, Kalf M, Liu Q et al: Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002; 71: 365-374
41. Zeng F, Ren ZR, Huang SZ et al: Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 2008; 29: 190-197
42. Daoud F, Angeard N, Demerre B et al: Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 2009; 18: 3779-3794
43. Moizard MP, Toutain A, Fournier D et al: Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet 2000; 8: 552-556
44. Apfeld J, Kenyon C: Cell nonautonomy of C. elegans daf-2 function in the regulation of diapause and life span. Cell 1998; 95: 199-210