Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

null Thi Tuyet Mai Nguyen; Yoshiko Murakami; Eamonn Sheridan; Sophie Ehresmann; Justine Rousseau; Anik St-Denis; Guoliang Chai; Norbert F. Ajeawung; Laura Fairbrother; Tyler Reimschisel; Alexandra Bateman; Elizabeth Berry-Kravis; Fan Xia; Jessica Tardif; David A. Parry; Clare V. Logan; Christine Diggle; Christopher P. Bennett; Louise Hattingh; Jill A. Rosenfeld; Michael Scott Perry; Michael J. Parker; Francoise Le Deist; Maha S. Zaki; Erika Ignatius; Pirjo Isohanni; Tuula Lonnqvist; Christopher J. Carroll; Colin A. Johnson; Joseph G. Gleeson; Taroh Kinoshita; Philippe M. Campeau

doi:10.1016/j.ajhg.2017.09.020

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F. Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A. Parry, Clare V. Logan, Christine Diggle, Christopher P. Bennett, Louise Hattingh, Jill A. RosenfeldMichael Scott Perry, Michael J. Parker, Francoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lonnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

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

Original language	English
Journal	American Journal of Human Genetics
Volume	101
Issue number	5
Pages (from-to)	856-865
Number of pages	10
ISSN	0002-9297
DOIs	https://doi.org/10.1016/j.ajhg.2017.09.020
Publication status	Published - 2 Nov 2017
MoE publication type	A1 Journal article-refereed

Fields of Science

MENTAL-RETARDATION SYNDROME
HYPOTONIA-SEIZURES SYNDROME
ANCHOR-SYNTHESIS PATHWAY
INTELLECTUAL DISABILITY
ALKALINE-PHOSPHATASE
CONGENITAL-ANOMALIES
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
CAUSE HYPERPHOSPHATASIA
PIGV MUTATIONS
GENE
3111 Biomedicine
1184 Genetics, developmental biology, physiology

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10.1016/j.ajhg.2017.09.020

Cite this

Thi Tuyet Mai Nguyen, Murakami, Y., Sheridan, E., Ehresmann, S., Rousseau, J., St-Denis, A., Chai, G., Ajeawung, N. F., Fairbrother, L., Reimschisel, T., Bateman, A., Berry-Kravis, E., Xia, F., Tardif, J., Parry, D. A., Logan, C. V., Diggle, C., Bennett, C. P., Hattingh, L., ... Campeau, P. M. (2017). Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101(5), 856-865. https://doi.org/10.1016/j.ajhg.2017.09.020

@article{7d47ba3fe0e3496c9c72142e7f9fb7d8,

title = "Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia",

keywords = "MENTAL-RETARDATION SYNDROME, HYPOTONIA-SEIZURES SYNDROME, ANCHOR-SYNTHESIS PATHWAY, INTELLECTUAL DISABILITY, ALKALINE-PHOSPHATASE, CONGENITAL-ANOMALIES, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, CAUSE HYPERPHOSPHATASIA, PIGV MUTATIONS, GENE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "{Thi Tuyet Mai Nguyen} and Yoshiko Murakami and Eamonn Sheridan and Sophie Ehresmann and Justine Rousseau and Anik St-Denis and Guoliang Chai and Ajeawung, {Norbert F.} and Laura Fairbrother and Tyler Reimschisel and Alexandra Bateman and Elizabeth Berry-Kravis and Fan Xia and Jessica Tardif and Parry, {David A.} and Logan, {Clare V.} and Christine Diggle and Bennett, {Christopher P.} and Louise Hattingh and Rosenfeld, {Jill A.} and Perry, {Michael Scott} and Parker, {Michael J.} and {Le Deist}, Francoise and Zaki, {Maha S.} and Erika Ignatius and Pirjo Isohanni and Tuula Lonnqvist and Carroll, {Christopher J.} and Johnson, {Colin A.} and Gleeson, {Joseph G.} and Taroh Kinoshita and Campeau, {Philippe M.}",

year = "2017",

month = nov,

day = "2",

doi = "10.1016/j.ajhg.2017.09.020",

language = "English",

volume = "101",

pages = "856--865",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

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Thi Tuyet Mai Nguyen, Murakami, Y, Sheridan, E, Ehresmann, S, Rousseau, J, St-Denis, A, Chai, G, Ajeawung, NF, Fairbrother, L, Reimschisel, T, Bateman, A, Berry-Kravis, E, Xia, F, Tardif, J, Parry, DA, Logan, CV, Diggle, C, Bennett, CP, Hattingh, L, Rosenfeld, JA, Perry, MS, Parker, MJ, Le Deist, F, Zaki, MS, Ignatius, E , Isohanni, P, Lonnqvist, T, Carroll, CJ, Johnson, CA, Gleeson, JG, Kinoshita, T & Campeau, PM 2017, 'Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia', American Journal of Human Genetics, vol. 101, no. 5, pp. 856-865. https://doi.org/10.1016/j.ajhg.2017.09.020

TY - JOUR

T1 - Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

AU - Thi Tuyet Mai Nguyen, null

AU - Murakami, Yoshiko

AU - Sheridan, Eamonn

AU - Ehresmann, Sophie

AU - Rousseau, Justine

AU - St-Denis, Anik

AU - Chai, Guoliang

AU - Ajeawung, Norbert F.

AU - Fairbrother, Laura

AU - Reimschisel, Tyler

AU - Bateman, Alexandra

AU - Berry-Kravis, Elizabeth

AU - Xia, Fan

AU - Tardif, Jessica

AU - Parry, David A.

AU - Logan, Clare V.

AU - Diggle, Christine

AU - Bennett, Christopher P.

AU - Hattingh, Louise

AU - Rosenfeld, Jill A.

AU - Perry, Michael Scott

AU - Parker, Michael J.

AU - Le Deist, Francoise

AU - Zaki, Maha S.

AU - Ignatius, Erika

AU - Isohanni, Pirjo

AU - Lonnqvist, Tuula

AU - Carroll, Christopher J.

AU - Johnson, Colin A.

AU - Gleeson, Joseph G.

AU - Kinoshita, Taroh

AU - Campeau, Philippe M.

PY - 2017/11/2

Y1 - 2017/11/2

KW - MENTAL-RETARDATION SYNDROME

KW - HYPOTONIA-SEIZURES SYNDROME

KW - ANCHOR-SYNTHESIS PATHWAY

KW - INTELLECTUAL DISABILITY

KW - ALKALINE-PHOSPHATASE

KW - CONGENITAL-ANOMALIES

KW - GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

KW - CAUSE HYPERPHOSPHATASIA

KW - PIGV MUTATIONS

KW - GENE

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ajhg.2017.09.020

DO - 10.1016/j.ajhg.2017.09.020

M3 - Article

VL - 101

SP - 856

EP - 865

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -