Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening

European Journal of Human Genetics

Volumn 8, Issue 7, 2000, Pages 552-556

  Moizard, Marie Pierre ^a   Toutain, Annick ^a   Fournier, Delphine ^a   Berret, Françoise ^a   Raynaud, Martine ^a   Billard, Catherine ^b   Andres, Christian ^c   Moraine, Claude ^a  

^a CHU BRETONNEAU   (France)

^b Centre de Pediatrie Clocheville   (France)

^c INSERM   (France)

Author keywords

Cognitive impairment; Dp71; Duchenne muscular dystrophy; Dystrophin isoforms; Point mutations

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; TRANSLATION REGULATION;

ADOLESCENT; BLOTTING, SOUTHERN; CHILD; COGNITION DISORDERS; DYSTROPHIN; EXONS; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; HUMANS; INTRONS; MUSCULAR DYSTROPHY, DUCHENNE; POINT MUTATION; PROTEIN BIOSYNTHESIS; PROTEIN ISOFORMS; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0033920086     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200488     Document Type: Article

References (35)

1. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM: Complete cloning of the Duchenne Muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517.
2. Roberts RG, Gardner R, Bobrow M: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mut 1994; 4; 1-11.
3. Lidov HGW, Byers J, Watkins SC, Kunkel LM: Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 1990; 348: 725-727.
4. Gorecki DC, Monaco AP, Derry JMJ, Walker AP, Barnard EA, Barnard PJ: Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1992; 1: 505-510.
5. Lidov HGW, Selig S, Kunkel LM: Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 1995; 4: 329-335.
6. Bar S, Barnea E, Levy Z, Neuman S, Yaffe D, Nudel U: A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 1990; 272: 557-560.
7. Hugnot JP, Gilgenkrantz H, Vincent N et al: Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in non muscle tissues. Proc Natl Acad Sci USA 1992; 89: 7506-7510.
8. Ervasti JM, Campbell KP: Membrane organization of the dystrophin-glycoprotein complex. Cell 1991; 66: 1121-1131.
9. Billard C, Gillet P, Signoret JL et al: Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy. Neuromusc Disord 1992; 2: 371-378.
10. Rapaport D, Passos-Bueno MR, Brandao L, Love D, Vainzof M, Zatz M: Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. Am J Meet Genet 1991; 39: 437-441.
11. Hodgson SV, Abbs S, Clark S et al: Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromusc Disord 1992; 2: 269-276.
12. Bushby K, Appleton R, Anderson LVB, Welch JL, Kelly P, Gardner-Medwin D: Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol 1995; 37: 260-269.
13. Bardoni A, Sironi M, Felisari G, Comi G, Bresolin N: Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. Lancet 1999; 353: 897-898.
14. Lenk U, Hanke R, Thiele H, Speer A: Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum Mol Genet 1993; 2: 1877-1881.
15. Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M: Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mut 1995; 6: 126-135.
16. Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C: Are Dp71 and Dp 140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet 1998; 80: 32-41.
17. Akalin N, Zietkiewicz E, Makalowski W, Labuda D: Are CpG sites mutation hot spots in the dystrophin gene? Hum Mol Genet 1994; 3: 1425-1426.
18. Barbieri AM, Soriani N, Ferlini A, Michelato A, Ferrari M, Carrera P: Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. Eur J Hum Genet 1996; 4: 183-187.
19. Tuffery S, Chambert S, Bareil C et al. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet 1998; 102: 334-342.
20. McIntosh I, Hamosh A, Dietz H: Nonsense mutations and diminished mRNA levels. Nat Genet 1993; 4: 219.
21. Roberts RG, Bobrow M, Bentley DR: Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 1992; 89: 2331-2335.
22. Lenk U, Oexle K, Voit T et al. A cystein 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 1996; 5: 973-975.
23. Tsukamoto H, Inui K, Matsuoka T, Yanagihara I, Fukushima H, Okada S: One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients. Hum Mol Genet 1994; 3: 995-996.
24. +1 - > A transversion at the 5′ splice site of intron 69 of the dytrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. Hum Mol Genet 1995; 4: 2171-2174.
25. Gardner RJ, Bobrow M, Roberts RG: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 1995; 57: 311-320.
26. Roest PAM, Bout M, van der Tuijen AC et al: Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19aa insertion in the cysteine rich domain of dystrophin compatible with BMD. J Med Genet 1996; 33: 935-939.
27. Lasa A, Gallano P, Baiget M: Three novel point mutations in the dystrophin gene in DMD patients. Hum Mut 1997; 9: 473-474.
28. Cau M, Cao A, Loi D et al: Two novel mutations (10410 T - > G; 10296 delC) at carboxy-terminus of the dystrophin gene associated with mental retardation. Hum Mut 1998; 12: 70-73.
29. Nigro V, Nigro G, Esposito MG et al: Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet 1994; 3: 1907-1908.
30. Bies RD, Phelps SF, Cortez MD, Roberts R, Caskey CT, Chamberlain JS: Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res 1992; 20: 1725-1731.
31. Greenberg DS, Sunada Y, Campbell KP, Yaffe D, Nudel U: Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice. Nat Genet 1994; 8: 340-344.
32. Greenberg DS, Schatz Y, Levy Z, Pizzo P, Yaffe D, Nudel U: Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71. Hum Mol Genet 1996; 5: 1299-1303.
33. Gorecki DC, Derry JMJ, Barnard EA: Dystroglycan: brain localisation and chromosome mapping in the mouse. Hum Mol Genet 1994; 3: 1589-1597.
34. Gorecki DC, Barnard E: Specific expression of G-dystrophin (Dp71) in the brain. NeuroReport 1995; 6: 893-896.
35. Sarig R, Mezger-Lallemand V, Gitelman I et al. Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Hum Mol Genet 1999; 8: 1-10.