Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Yoshimi Inaba; Amy Herlihy; Charles E Schwartz; Cindy Skinner; Quang M Bui; Joanna E Cobb; Elva Z Shi; David Francis; Alison Arvaj; David J Amor; Kate Pope; Tiffany Wotton; Jonathon Cohen; Jacqueline K Hewitt; Randi J Hagerman; Sylvia Ann Metcalfe; John L Hopper; Danuta Z Loesch; Howard Slater; David Eugeni Godler

doi:10.1038/gim.2012.134

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Yoshimi Inaba, Amy Herlihy, Charles E Schwartz, Cindy Skinner, Quang M Bui, Joanna E Cobb, Elva Z Shi, David Francis, Alison Arvaj, David J Amor, Kate Pope, Tiffany Wotton, Jonathon Cohen, Jacqueline K Hewitt, Randi J Hagerman, Sylvia Ann Metcalfe, John L Hopper, Danuta Z Loesch, Howard Slater, David Eugeni Godler

Research output: Contribution to journal › Article › Research › peer-review

18 Citations (Scopus)

Abstract

We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening.Methods:Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG

Original language	English
Pages (from-to)	290 - 298
Number of pages	9
Journal	Genetics in Medicine
Volume	15
Issue number	4
DOIs	https://doi.org/10.1038/gim.2012.134
Publication status	Published - 2013

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Inaba, Y., Herlihy, A., Schwartz, C. E., Skinner, C., Bui, Q. M., Cobb, J. E., Shi, E. Z., Francis, D., Arvaj, A., Amor, D. J., Pope, K., Wotton, T., Cohen, J., Hewitt, J. K., Hagerman, R. J., Metcalfe, S. A., Hopper, J. L., Loesch, D. Z., Slater, H., & Godler, D. E. (2013). Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genetics in Medicine, 15(4), 290 - 298. https://doi.org/10.1038/gim.2012.134

@article{6184e5cb007b4ce49057d24396addfa4,

title = "Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study",

abstract = "We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening.Methods:Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG",

author = "Yoshimi Inaba and Amy Herlihy and Schwartz, {Charles E} and Cindy Skinner and Bui, {Quang M} and Cobb, {Joanna E} and Shi, {Elva Z} and David Francis and Alison Arvaj and Amor, {David J} and Kate Pope and Tiffany Wotton and Jonathon Cohen and Hewitt, {Jacqueline K} and Hagerman, {Randi J} and Metcalfe, {Sylvia Ann} and Hopper, {John L} and Loesch, {Danuta Z} and Howard Slater and Godler, {David Eugeni}",

year = "2013",

doi = "10.1038/gim.2012.134",

language = "English",

volume = "15",

pages = "290 -- 298",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "4",

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Inaba, Y, Herlihy, A, Schwartz, CE, Skinner, C, Bui, QM, Cobb, JE, Shi, EZ, Francis, D, Arvaj, A, Amor, DJ, Pope, K, Wotton, T, Cohen, J, Hewitt, JK, Hagerman, RJ, Metcalfe, SA, Hopper, JL, Loesch, DZ, Slater, H & Godler, DE 2013, 'Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study', Genetics in Medicine, vol. 15, no. 4, pp. 290 - 298. https://doi.org/10.1038/gim.2012.134

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. / Inaba, Yoshimi; Herlihy, Amy; Schwartz, Charles E et al.
In: Genetics in Medicine, Vol. 15, No. 4, 2013, p. 290 - 298.

Research output: Contribution to journal › Article › Research › peer-review

TY - JOUR

T1 - Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

AU - Inaba, Yoshimi

AU - Herlihy, Amy

AU - Schwartz, Charles E

AU - Skinner, Cindy

AU - Bui, Quang M

AU - Cobb, Joanna E

AU - Shi, Elva Z

AU - Francis, David

AU - Arvaj, Alison

AU - Amor, David J

AU - Pope, Kate

AU - Wotton, Tiffany

AU - Cohen, Jonathon

AU - Hewitt, Jacqueline K

AU - Hagerman, Randi J

AU - Metcalfe, Sylvia Ann

AU - Hopper, John L

AU - Loesch, Danuta Z

AU - Slater, Howard

AU - Godler, David Eugeni

PY - 2013

Y1 - 2013

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AB - We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening.Methods:Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG

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U2 - 10.1038/gim.2012.134

DO - 10.1038/gim.2012.134

M3 - Article

SN - 1098-3600

VL - 15

SP - 290

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JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 4

ER -

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Abstract

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