Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

American Journal of Medical Genetics

Volumn 80, Issue 2, 1998, Pages 99-102

  Saad, Fawzy A ^a,b,d   Merlini, Luciano ^c   Mostacciuolo, Maria Luisa ^a   Danieli, Gian Antonio ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b TANTA UNIVERSITY   (Egypt)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Double mutation; DSCA; Dystrophin; Missense

Indexed keywords

CREATINE KINASE; DYSTROPHIN; GLUTAMINE; LEUCINE; LYSINE; PHENYLALANINE;

ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DNA DETERMINATION; EXON; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; FEMALE; GENETICS; MIDDLE AGED; MUSCULAR DYSTROPHY; PEDIGREE; POINT MUTATION;

DYSTROPHIN; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION;

EID: 0031763622     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19981102)80:2<99::aid-ajmg1>3.0.co;2-l     Document Type: Article

References (26)

1. Bushby KMD, Cleghorn NJ, Curtis A, Haggerty ID, Nicholson LVB, Johnson MA, Harris JB, Bhattacharya SS (1991): Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. Hum Genet 88:195-199.
2. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT (1991): Carrier detection and prenatal diagnosis in Duchenne and Becker Muscular Dystrophy families using dinucleotide repeat polymorphisms. Am J Hum Genet 49:951-960.
3. Frydman M, Straussberg R, Shomart R, Goebel H, Legum C, Shiloh Y (1995): Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. Am J Med Genet 58:209-212.
4. Gospe SM, Lazaro RP, Lava NS, Grootsholten PM, Scott MO, Fischbeck KH (1989): Familial X-linked myalgia and cramps: A non-progressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277-1280.
5. Hausmanova-Petrusewicz I, Borkowska J (1974): Intrafamilial variability of X-liked progressive muscular dystrophy. J Neurol 218:43-50.
6. Heald A, Anderson LVB, Bushby KMD, Shaw PJ (1994): Becker muscular dystrophy with onset after 60 years. Neurology 44:2388-2390.
7. Jackson RC, Taylor BD, Zellweger H, Bianchine JW (1974): Muscular dystrophy: Duchenne type and Becker type within a kindred. Am J Hum Genet 26:44A.
8. Kilimann MW, Pizzuti A, Grompe M, Caskey CT (1992): Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet 89:253-258.
9. Koenig M, Kunkel LM (1990): Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem 265:4560-4566.
10. Lenk U, Hanke R, Thiele H, Speer A (1993): Point mutations at the carboxy terminus of the dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum Mol Genet 2:1877-1881.
11. Merlini L, Dell'Accio D, Granata C (1992): Isokinetic muscle testing (IMT) in neuromuscular diseases: Preliminary report. Neuromuscul Disord 2:210-207.
12. Miller SA, Dykes DD, Polesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
13. Mostacciuolo ML, Lombardi A, Cambissa V, Danieli GA, Angelini C (1987): Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet 75:217-220.
14. Mostacciuolo ML, Miorin M, Vitiello L, Rampazzo A, Fanin M, Angelini C, Danieli GA (1994): Occurrence of two different intragenic deletions in two male relatives affected with Duchenne Muscular Dystrophy. Am J Med Genet 50:84-86.
15. Nigro V, Nigro G, Esposito MG, Comi LI, Molinari AM, Puca GA, Politano L (1994): Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet 3:1907-1908.
16. Palmucci L, Doriguzzi C, Mongini T, Restagno C, Chiado-Piat L, Maniscalco M (1994): Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60 years old man with 26 percent deletion of the dystrophin gene. Neurology 44:541-543.
17. Prior TW, Papp AC, Snyder PJ, Burghes AHM, Bartolo C, Sedra MS, Western LM, Mendell RA (1993): Missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet 4:357-360.
18. Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AHM, Mendell JR (1994): Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. Hum Mol Genet 3:1173-1174.
19. Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD (1987): Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from individual with congenital adrenal hyperplasia. EMBO J 6:1653-1661.
20. Saad FA, Vita G, Mora M, Morandi L, Vitiello L, Oliviero S, Danieli GA (1993): A novel nonsense mutation in the human dystrophin gene. Hum Mutat 2:314-316.
21. Saad FA, Halligar B, Müller CR, Roberts RG, Danieli GA (1994a): Single base substitutions are detected by double strand conformation analysis. Nucleic Acids Res 22:4352-1353.
22. Saad FA, Vita G, Toffplatti L, Danieli GA (1994b): A possible missense mutation detected in the dystrophin gene by double strand conformation analysis. Neuromuscul Disord 4:335-341.
23. Saad FA, Mostacciuolo ML, Trevisan CP, Tomelleri G, Angelini C, Abedel Salam E, Danieli GA (1997): Novel mutations and polymorphisms in the human dystrophin gene detected by double strand conformation analysis. Hum Mutat 9:188-190.
24. Savov A, Angeliheva D, Balassopoulou A, Jordanova A, NoussiaArvanitakis S, Kalaydjieva L (1995): Double mutant alleles: are they rare? Hum Mol Genet 4:1169-1171.
25. Servidei S, Manfredi G, Mirabella M, Galluzzi G, Bertini E, Ricci E, Tonali P (1993): Familial hyperCKemia can be a variant of Becker muscular dystrophy. Neurology 43:293.
26. Winnard AV, Jia-Hsu Y, Gibbs RA, Mendell JR, Burghes AHM (1992): Identification of a 2 base pair nonsense mutation causing a cryptic site in a DMD patient. Hum Mol Genet 1:645-646.