Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations

Human Mutation

Volumn 4, Issue 1, 1994, Pages 1-11

  Roberts, Roland G ^a   Gardner, Rebecca J ^a   Bobrow, Martin ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

Becker muscular dystrophy (BMD); Duchenne muscular dystrophy (DMD); Dystrophin; Point mutations

Indexed keywords

CELL DNA; DYSTROPHIN; MUTANT PROTEIN;

BECKER MUSCULAR DYSTROPHY; DNA POLYMORPHISM; DUCHENNE MUSCULAR DYSTROPHY; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GENOME; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SYNTHESIS REGULATION; REVIEW; TRANSLATION REGULATION;

DNA; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; GENETIC TECHNIQUES; HUMAN; MUSCULAR DYSTROPHIES; PEPTIDE CHAIN TERMINATION; PHENOTYPE; POINT MUTATION; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0028303798     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380040102     Document Type: Article

References (91)

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2. Beta‐globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability
3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
4. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
5. Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA
6. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development
7. Characterisation of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells
8. Point mutation in the human dystrophin gene: Identification through Western blot analysis
9. An alternative dystrophin transcript specific to peripheral nerve
10. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain
11. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
12. Transcription of the dystrophin gene in human muscle and nonmuscle tissues
13. Illegitimate transcription: Transcription of any gene in any cell type
14. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
15. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA
16. Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre‐mRNA or the half‐life of cytoplasmic mRNA
17. Carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
18. Premature termination mutation causing Duchenne muscular dystrophy
19. Reactivity of cytosine and thymine in single‐base‐pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
20. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin
21. Myopathy in complex glycerol kinase deficiency patients is due to 3′ deletions of the dystrophin gene
22. Topography of the Duchenne Muscular Dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
23. Molecular definition of bovine arginosuccinate synthetase deficiency
24. Skipping of constitutive exons in vivo induced by nonsense mutations
25. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus
26. A nonsense mutation and exon skipping in the Fanconi anemia group C gene
27. Molecular and phenotypic analysis of patients with deletions within the deletion‐rich region of the Duchenne muscular dystrophy (DMD) gene
28. The rapid detection of unknown mutations in nucleic acids
29. −1 to T) in a 5′ splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy
30. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
31. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
32. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy
33. Is the carboxyl‐terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy
34. Duplication mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlation
35. Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy
36. Illegitimate transcription: its use in the study of inherited disease
37. Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR
38. Point mutation screening for Duchenne muscular dystrophy by SSCP‐analysis of multiplex PCR products by use of the PhastSystem™
39. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility
40. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
41. The complete sequence of dystrophin predicts a rod‐shaped cytoskeletal protein
42. Non‐isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene
43. Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients
44. Reduced mRNA and a nonsense mutation in the insulin‐receptor gene produce heritable severe insulin resistance
45. Characterization of deletions in the dystrophin gene giving mild phenotypes
46. Frame‐shift deletions in patients with Duchenne and Becker muscular dystrophy
47. Nonsense‐codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy
48. Deficiency of the 50K dystrophin‐associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
49. A very small frame‐shifting deletion within exon 19 of the Duchenne muscular dystrophy gene
50. Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
51. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia
52. Nonsense mutations and diminished mRNA levels
53. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
54. Two factor IX mutations in the family of an isolated haemophilia B patient: Direct carrier diagnosis by amplification mismatch detection (AMD)
55. Alternative splicing: A mechanism for phenotypic rescue of a common inherited defect
56. Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
57. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
58. Duchenne muscular dystrophy gene expression in normal and diseased human muscle
59. Genetic heterogeneity for Duchenne‐like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis
60. Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation
61. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
62. Exon 44 nonsense mutation in two Duchenne muscular dystrophy brothers detected by heteroduplex analysis
63. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection
64. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones
65. Exon definition may facilitate splice site selection in RNAs with multiple exons
66. Primary structure and muscle‐specific expression of the 50‐kDa dystrophin‐associated glycoprotein (adhalin)
67. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy
68. Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA
69. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
70. Point mutations in the dystrophin gene
71. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
72. Exon structure of the human dystrophin gene
73. Point mutation in a Becker muscular dystrophy patient
74. Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts
75. Protein truncation test (PTT) for rapid detection of translation‐terminating mutations
76. A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra‐exonic deletions
77. A novel nonsense mutation in the human dystrophin gene
78. Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity
79. RNA splice junctions of different classes ot eukaryotes; sequence statistics and functional implications in gene expression
80. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
81. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation
82. Mutations which alter splicing in the human hypoxanthine‐guanine phosphorihosyltransferase gene
83. Glycoprotein‐binding site of dystrophin is confined to the cysteine‐rich domain and the first half of the carboxy‐terminal domain
84. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
85. Detecting single base substitutions as heteroduplex polymorphisms
86. Two distinct mutations in a single dystrophin gene: Identification of an altered splice‐site as the primary Becker muscular dystrophy mutation
87. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
88. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient
89. Dystrophin is a component of the subsynaptic membrane