MS-MLPA analysis for FMR1 gene: Evaluation in a routine diagnostic setting

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Gatta, Valentina ^a   Gennaro, Elena ^b   Franchi, Sara ^a   Cecconi, Massimiliano ^b   Antonucci, Ivana ^a   Tommasi, Marco ^a   Palka, Giandomenico ^a   Coviello, Domenico ^b   Stuppia, Liborio ^a   Grasso, Marina ^b  

^a UNIVERSITY OF CHIETI   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

FMR1; Fragile X Syndrome; Methylation; MS MLPA

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ARTICLE; CHORION VILLUS SAMPLING; COPY NUMBER VARIATION; DNA METHYLATION; FEMALE; FETUS; HUMAN; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; MALE; METHYLATION; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION; PROMOTER REGION; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; X CHROMOSOME;

BLOTTING, SOUTHERN; CHORIONIC VILLI SAMPLING; DNA METHYLATION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PROMOTER REGIONS, GENETIC; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES;

EID: 84881046996     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-79     Document Type: Article

References (19)

1. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995, 57:1006-1018. 1801357, 7485149.
2. Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess 2003, 7(16):1-106.
3. Hagerman PJ. The fragile X prevalence paradox. J Med Genet 2008, 45:498-499. 10.1136/jmg.2008.059055, 2728763, 18413371.
4. Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta 2009, 1790:467-477. 10.1016/j.bbagen.2009.02.007, 2692361, 19233246.
5. Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A. An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn 2005, 7:805-812.
6. Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med 2013, 15(7):575-586. 10.1038/gim.2013.61, 23765048.
7. Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F, Latham GJ. An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis. J Mol Diagn 2010, 12:589-600. 10.2353/jmoldx.2010.090227, 2928422, 20616364.
8. Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 2010, 56(3):399-408.
9. Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J Hum Genet 2007, 52(1):21-27.
10. Stuppia L, Antonucci I, Palka G, Gatta V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci 2012, 13(3):3245-3276. 3317712, 22489151.
11. Veschi S, Aceto G, Scioletti AP, Gatta V, Palka G, Cama A, Mariani-Costantini R, Battista P, Calò V, Barbera F, Bazan V, Russo A, Stuppia L. High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Ann Oncol 2007, 18(Suppl 6):86-92.
12. Colosimo A, Gatta V, Guida V, Leodori E, Foglietta E, Rinaldi S, Cappabianca MP, Amato A, Stuppia L, Dallapiccola B. Application of MLPA assay to characterize unsolved α-globin gene rearrangements. Blood Cells Mol Dis 2011, 46(2):139-144. 10.1016/j.bcmd.2010.11.006, 21190870.
13. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali Franchi P, Calabrese G, Uncini A, Stuppia L. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005, 117(1):92-98. 10.1007/s00439-005-1270-7, 15841391.
14. Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2012, 20(3):283-290. 10.1038/ejhg.2011.187, 3283188, 22045295.
15. Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M. FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. Am J Med Genet 2011, 155:221-224.
16. Nygren AOH, Lens SI, Carvalho R. Methylation-specific multiplex ligation-dependent. Probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn 2008, 10:496-501. 10.2353/jmoldx.2008.080053, 2570632, 18832455.
17. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991, 325:1673-1681. 10.1056/NEJM199112123252401, 1944467.
18. Abdool A, Donahue AC, Wohlgemuth JG, Yeh CH. Detection, analysis and clinical validation of chromosomal aberrations by multiple ligation-dependent probe amplification in chronic leukemia. PLoS One 2010, 5(10):e15407. 10.1371/journal.pone.0015407, 2963645, 21049055.
19. Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ. High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med 2011, 13(6):528-538. 10.1097/GIM.0b013e31820a780f, 21430544.