Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Simranpreet Kaur; Nicole J. Van Bergen; Bruria Ben-Zeev; Emanuela Leonardi; Tiong Y. Tan; David Coman; Benjamin Kamien; Susan M. White; Miya St John; Dean Phelan; Kristin Rigbye; Sze Chern Lim; Michelle C. Torres; Melanie Marty; Elena Savva; Teresa Zhao; Sean Massey; Alessandra Murgia; Wendy A. Gold; John Christodoulou

doi:10.1016/j.jgg.2020.09.003

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Simranpreet Kaur, Nicole J. Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y. Tan, David Coman, Benjamin Kamien, Susan M. White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C. Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A. Gold, John Christodoulou^*

^*Corresponding author for this work

Pediatrics

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

2 Scopus citations

Original language	English
Pages (from-to)	650-654
Number of pages	5
Journal	Journal of Genetics and Genomics
Volume	47
Issue number	10
DOIs	https://doi.org/10.1016/j.jgg.2020.09.003
State	Published - 20 Oct 2020

Funding

Funders	Funder number
Fondazione Istituto di Ricerca
Italian Ministry of Health Young Investigator	GR-2011-02347754
Research Training Program
Vanessa Atkinson
National Health and Medical Research Council	1116976
State Government of Victoria
Istituto Nazionale di Ricerca Metrologica	18-04

Access to Document

10.1016/j.jgg.2020.09.003

Cite this

Kaur, S., Van Bergen, N. J., Ben-Zeev, B., Leonardi, E., Tan, T. Y., Coman, D., Kamien, B., White, S. M., St John, M., Phelan, D., Rigbye, K., Lim, S. C., Torres, M. C., Marty, M., Savva, E., Zhao, T., Massey, S., Murgia, A., Gold, W. A., & Christodoulou, J. (2020). Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). Journal of Genetics and Genomics, 47(10), 650-654. https://doi.org/10.1016/j.jgg.2020.09.003

@article{a87428a3f2584eff8e691b54efb5a013,

title = "Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)",

author = "Simranpreet Kaur and {Van Bergen}, {Nicole J.} and Bruria Ben-Zeev and Emanuela Leonardi and Tan, {Tiong Y.} and David Coman and Benjamin Kamien and White, {Susan M.} and {St John}, Miya and Dean Phelan and Kristin Rigbye and Lim, {Sze Chern} and Torres, {Michelle C.} and Melanie Marty and Elena Savva and Teresa Zhao and Sean Massey and Alessandra Murgia and Gold, {Wendy A.} and John Christodoulou",

note = "Funding Information: We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and Research Training Program scholarship (to S.K.). The work conducted at the University of Padova was supported by Italian Ministry of Health Young Investigator ( GR-2011-02347754, to E.L.), and Fondazione Istituto di Ricerca Pediatrica – Citt{\`a} della Speranza (18-04, to E.L.). We acknowledge the Victorian Clinical Genetics Services for performing whole exome sequencing (WES). We also thank Chris Ieng and Damien Zammit for running the next-generation sequencing data on Cpipe. We would also like to acknowledge Vanessa Atkinson and Dr. Karen Carpenter from Diagnostic Genomics Laboratory, PathWest, for performing sequencing on individual 3. Recruitment and data collection of individual 7 was supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) ( 1116976 ). Funding Information: We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and Research Training Program scholarship (to S.K.). The work conducted at the University of Padova was supported by Italian Ministry of Health Young Investigator (GR-2011-02347754 to E.L.), and Fondazione Istituto di Ricerca Pediatrica ? Citt? della Speranza (18-04 to E.L.). We acknowledge the Victorian Clinical Genetics Services for performing whole exome sequencing (WES). We also thank Chris Ieng and Damien Zammit for running the next-generation sequencing data on Cpipe. We would also like to acknowledge Vanessa Atkinson and Dr. Karen Carpenter from Diagnostic Genomics Laboratory, PathWest, for performing sequencing on individual 3. Recruitment and data collection of individual 7 was supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) (1116976).",

year = "2020",

month = oct,

day = "20",

doi = "10.1016/j.jgg.2020.09.003",

language = "אנגלית",

volume = "47",

pages = "650--654",

journal = "Journal of Genetics and Genomics",

issn = "1673-8527",

publisher = "Institute of Genetics and Developmental Biology",

number = "10",

}

Kaur, S, Van Bergen, NJ, Ben-Zeev, B, Leonardi, E, Tan, TY, Coman, D, Kamien, B, White, SM, St John, M, Phelan, D, Rigbye, K, Lim, SC, Torres, MC, Marty, M, Savva, E, Zhao, T, Massey, S, Murgia, A, Gold, WA & Christodoulou, J 2020, 'Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)', Journal of Genetics and Genomics, vol. 47, no. 10, pp. 650-654. https://doi.org/10.1016/j.jgg.2020.09.003

TY - JOUR

T1 - Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

AU - Kaur, Simranpreet

AU - Van Bergen, Nicole J.

AU - Ben-Zeev, Bruria

AU - Leonardi, Emanuela

AU - Tan, Tiong Y.

AU - Coman, David

AU - Kamien, Benjamin

AU - White, Susan M.

AU - St John, Miya

AU - Phelan, Dean

AU - Rigbye, Kristin

AU - Lim, Sze Chern

AU - Torres, Michelle C.

AU - Marty, Melanie

AU - Savva, Elena

AU - Zhao, Teresa

AU - Massey, Sean

AU - Murgia, Alessandra

AU - Gold, Wendy A.

AU - Christodoulou, John

N1 - Funding Information: We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and Research Training Program scholarship (to S.K.). The work conducted at the University of Padova was supported by Italian Ministry of Health Young Investigator ( GR-2011-02347754, to E.L.), and Fondazione Istituto di Ricerca Pediatrica – Città della Speranza (18-04, to E.L.). We acknowledge the Victorian Clinical Genetics Services for performing whole exome sequencing (WES). We also thank Chris Ieng and Damien Zammit for running the next-generation sequencing data on Cpipe. We would also like to acknowledge Vanessa Atkinson and Dr. Karen Carpenter from Diagnostic Genomics Laboratory, PathWest, for performing sequencing on individual 3. Recruitment and data collection of individual 7 was supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) ( 1116976 ). Funding Information: We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and Research Training Program scholarship (to S.K.). The work conducted at the University of Padova was supported by Italian Ministry of Health Young Investigator (GR-2011-02347754 to E.L.), and Fondazione Istituto di Ricerca Pediatrica ? Citt? della Speranza (18-04 to E.L.). We acknowledge the Victorian Clinical Genetics Services for performing whole exome sequencing (WES). We also thank Chris Ieng and Damien Zammit for running the next-generation sequencing data on Cpipe. We would also like to acknowledge Vanessa Atkinson and Dr. Karen Carpenter from Diagnostic Genomics Laboratory, PathWest, for performing sequencing on individual 3. Recruitment and data collection of individual 7 was supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) (1116976).

PY - 2020/10/20

Y1 - 2020/10/20

UR - http://www.scopus.com/inward/record.url?scp=85099166712&partnerID=8YFLogxK

U2 - 10.1016/j.jgg.2020.09.003

DO - 10.1016/j.jgg.2020.09.003

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???

C2 - 33386251

AN - SCOPUS:85099166712

SN - 1673-8527

VL - 47

SP - 650

EP - 654

JO - Journal of Genetics and Genomics

JF - Journal of Genetics and Genomics

IS - 10

ER -

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Funding

Access to Document

Other files and links

Cite this