SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 214-219

  Papić, Lea ^a   Fischer, Dirk ^b,c   Trajanoski, Slave ^a   Höftberger, Romana ^d   Fischer, Carina ^a   Ströbel, Thomas ^d   Schmidt, Wolfgang M ^d   Bittner, Reginald E ^d   Schabhüttl, Maria ^a   Gruber, Karin ^e   Pieber, Thomas R ^a   Janecke, Andreas R ^f   Auer Grumbach, Michaela ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e Medical University of Vienna ^*  (Austria)

^f INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

CAPN3; CAV3; FKRP; Homozygosity mapping; LGMD2; SNP array

Indexed keywords

CALPAIN 3; DYSTROGLYCAN; FUKUTIN RELATED PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 15; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

ADOLESCENT; ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CALPAIN; CAVEOLIN 3; CHILD; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 79955483229     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.12.003     Document Type: Article

References (17)

1. Angelini C. How to diagnose limb girdle muscular dystrophies. Neurologisch 2009, 2:24-26.
2. Carr I.M., Szymanska K., Sheridan E., Markham A.F., Bonthron D.T., Johnson C.A. Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders. Hum. Mutat. 2009, 30:1642-1649.
3. Fischer D., Walter M.C., Kesper K., Petersen J.A., Aurino S., Nigro V., Kubisch C., Meindl T., Lochmüller H., Wilhelm K., Urbach H., R Schröder Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J. Neurol. 2005, 252:538-547.
4. Fulizio L., Nascimbeni A.C., Fanin M., Piluso G., Politano L., Nigro V., Angelini C. Molecular and muscle pathology in a series of caveolinopathy patients. Hum. Mutat. 2005, 25:82-89.
5. Guglieri M., Straub V., Bushby K., Lochmüller H. Limb-girdle muscular dystrophies. Curr. Opin. Neurol. 2008, 21:576-584.
6. Hayashi Y.K., Matsuda C., Ogawa M., Goto K., Tominaga K., Mitsuhashi S., Park Y.E., Nonaka I., Hino-Fukuyo N., Haginoya K., Sugano H., Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J. Clin. Invest. 2009, 119:2623-2633.
7. Hildebrandt F., Heeringa S.F., Rüschendorf F., Attanasio M., Nürnberg G., Becker C., Seelow D., Huebner N., Chernin G., Vlangos C.N., Zhou W., O'Toole J.F., Hoskins B.E., Wolf M.T., Hinkes B.G., Chaib H., Ashraf S., Schoeb D.S., Ovunc B., Allen S.J., Vega-Warner V., Wise E., Harville H.M., Lyons R.H., Washburn J., Macdonald J., Nürnberg P., Otto E.A. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 2009, 5:e1000353.
8. Krahn M., Bernard R., Pecheux C., Hammouda el H., Eymard B., Lopez de Munain A., Cobo A.M., Romero N., Urtizberea A., Leturcq F., Levy N. Calpain Study Group of the French LGMD Network, screening of the CAPN3 gene in patients with possible LGMD2A. Clin. Genet. 2006, 69:444-449.
9. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970, 227:680-685.
10. McQuillan R., Leutenegger A.L., Abdel-Rahman R., Franklin C.S., Pericic M., Barac-Lauc L., Smolej-Narancic N., Janicijevic B., Polasek O., Tenesa A., Macleod A.K., Farrington S.M., Rudan P., Hayward C., Vitart V., Rudan I., Wild S.H., Dunlop M.G., Wright A.F., Campbell H., Wilson J.F. Runs of homozygosity in European populations. Am. J. Hum. Genet. 2008, 83:359-372.
11. Mercuri E., Pichiecchio A., Allsop J., Messina S., Pane M., Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J. Magn. Reson. Imaging 2007, 25:433-440.
12. Norwood F., de Visser M., Eymard B., Lochmüller H., Bushby K. EFNS Guideline Task Force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur. J. Neurol. 2007, 14:1305-1312.
13. R Development Core Team R: A Language and Environment for Statistical Computing 2009, R Foundation for Statistical Computing, Vienna, Austria, URL. http://www.R-project.org.
14. Regelsberger G., Höftberger R., Pickl W.F., Zlabinger G.J., Körmöczi U., Salzer-Muhar U., Luckner D., Bodamer O.A., Mayr J.A., Muss W.H., Budka H., Bernheimer H. Danon disease: case report and detection of new mutation. J. Inherit. Metab. Dis. Jul 7 2009, (Epub ahead of print).
15. Seelow D., Schuelke M., Hildebrandt F., Nürnberg P. HomozygosityMapper - an interactive approach to homozygosity mapping. Nucleic Acids Res. 2009, 37(Web Server issue):W593-W599.
16. Strobel T., Swanson L., Korsmeyer S., Cannistra S.A. Radiation-induced apoptosis is not enhanced by expression of either p53 or BAX in SW626 ovarian cancer cells. Oncogene 1997, 14:2753-2758.
17. Walter M.C., Petersen J.A., Stucka R., Fischer D., Schröder R., Vorgerd M., Schroers A., Schreiber H., Hanemann C.O., Knirsch U., Rosenbohm A., Huebner A., Barisic N., Horvath R., Komoly S., Reilich P., Müller-Felber W., Pongratz D., Müller J.S., Auerswald E.A., Lochmüller H. FKRP (826 > A) frequently causes limb -girdle muscular dystrophy in german patients. J. Med. Genet. 2004, 41:e50.