Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome

Genetics in Medicine

Volumn 12, Issue 9, 2010, Pages 595-

  Godler, David E ^a   Slater, Howard R ^b   Amor, David ^a,b   Loesch, Danuta Z ^c,d  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d LA TROBE UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ALLELE; DNA METHYLATION; EARLY DIAGNOSIS; EPIGENETICS; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; LETTER; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION;

DNA METHYLATION; EPIGENESIS, GENETIC; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PRENATAL DIAGNOSIS;

EID: 77957226059     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181f07088     Document Type: Letter

References (3)

1. Coffee B. Commentary on population screening for fragile X syndrome. Genet Med. 2010;12:411-412.
2. Godler DE, Tassone F, Loesch DZ, et al. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 2010;19:1618-1632.
3. Hagerman RJ, Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile X syndrome. Pediatrics 2009;123:378-390.