Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Ronit Marom; Mahim Jain; Lindsay C. Burrage; I-Wen Song; Brett H. Graham; Chester W. Brown; Servi J. C. Stevens; Alexander P. A. Stegmann; Andrew T. Gunter; Julie D. Kaplan; Ralitza H. Gavrilova; Marwan Shinawi; Jill A. Rosenfeld; Yangjin Bae; Alyssa A. Tran; Yuqing Chen; James T. Lu; Richard A. Gibbs; Christine Eng; Yaping Yang; Justine Rousseau; Bert B. A. de Vries; Philippe M. Campeau; Brendan Lee

doi:10.1002/humu.23282

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J. C. Stevens, Alexander P. A. Stegmann, Andrew T. Gunter, Julie D. Kaplan, Ralitza H. Gavrilova, Marwan Shinawi, Jill A. Rosenfeld, Yangjin Bae, Alyssa A. Tran, Yuqing Chen, James T. Lu, Richard A. Gibbs, Christine Eng, Yaping YangJustine Rousseau, Bert B. A. de Vries, Philippe M. Campeau^*, Brendan Lee^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	1365-1371
Number of pages	7
Journal	Human Mutation
Volume	38
Issue number	10
DOIs	https://doi.org/10.1002/humu.23282
Publication status	Published - Oct 2017

Keywords

ACTL6A
BAF complex
intellectual disability
speech delay
ACTIN-RELATED PROTEINS
COFFIN-SIRIS SYNDROME
CHROMATIN-REMODELING COMPLEX
BARAITSER-WINTER SYNDROME
DE-NOVO MUTATIONS
MENTAL-RETARDATION
NUCLEAR ACTIN
HAPLOINSUFFICIENCY CAUSES
SWI/SNF COMPLEX
GENE

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10.1002/humu.23282

Cite this

Marom, R., Jain, M., Burrage, L. C., Song, I-W., Graham, B. H., Brown, C. W., Stevens, S. J. C., Stegmann, A. P. A., Gunter, A. T., Kaplan, J. D., Gavrilova, R. H., Shinawi, M., Rosenfeld, J. A., Bae, Y., Tran, A. A., Chen, Y., Lu, J. T., Gibbs, R. A., Eng, C., ... Lee, B. (2017). Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation, 38(10), 1365-1371. https://doi.org/10.1002/humu.23282

Marom, Ronit ; Jain, Mahim ; Burrage, Lindsay C. ; Song, I-Wen ; Graham, Brett H. ; Brown, Chester W. ; Stevens, Servi J. C. ; Stegmann, Alexander P. A. ; Gunter, Andrew T. ; Kaplan, Julie D. ; Gavrilova, Ralitza H. ; Shinawi, Marwan ; Rosenfeld, Jill A. ; Bae, Yangjin ; Tran, Alyssa A. ; Chen, Yuqing ; Lu, James T. ; Gibbs, Richard A. ; Eng, Christine ; Yang, Yaping ; Rousseau, Justine ; de Vries, Bert B. A. ; Campeau, Philippe M. ; Lee, Brendan. / Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. In: Human Mutation. 2017 ; Vol. 38, No. 10. pp. 1365-1371.

@article{ae51efbf05334097821ad3689fe2c17f,

title = "Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability",

keywords = "ACTL6A, BAF complex, intellectual disability, speech delay, ACTIN-RELATED PROTEINS, COFFIN-SIRIS SYNDROME, CHROMATIN-REMODELING COMPLEX, BARAITSER-WINTER SYNDROME, DE-NOVO MUTATIONS, MENTAL-RETARDATION, NUCLEAR ACTIN, HAPLOINSUFFICIENCY CAUSES, SWI/SNF COMPLEX, GENE",

author = "Ronit Marom and Mahim Jain and Burrage, {Lindsay C.} and I-Wen Song and Graham, {Brett H.} and Brown, {Chester W.} and Stevens, {Servi J. C.} and Stegmann, {Alexander P. A.} and Gunter, {Andrew T.} and Kaplan, {Julie D.} and Gavrilova, {Ralitza H.} and Marwan Shinawi and Rosenfeld, {Jill A.} and Yangjin Bae and Tran, {Alyssa A.} and Yuqing Chen and Lu, {James T.} and Gibbs, {Richard A.} and Christine Eng and Yaping Yang and Justine Rousseau and {de Vries}, {Bert B. A.} and Campeau, {Philippe M.} and Brendan Lee",

year = "2017",

month = oct,

doi = "10.1002/humu.23282",

language = "English",

volume = "38",

pages = "1365--1371",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

number = "10",

}

Marom, R, Jain, M, Burrage, LC, Song, I-W, Graham, BH, Brown, CW, Stevens, SJC , Stegmann, APA, Gunter, AT, Kaplan, JD, Gavrilova, RH, Shinawi, M, Rosenfeld, JA, Bae, Y, Tran, AA, Chen, Y, Lu, JT, Gibbs, RA, Eng, C, Yang, Y, Rousseau, J, de Vries, BBA, Campeau, PM & Lee, B 2017, 'Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability', Human Mutation, vol. 38, no. 10, pp. 1365-1371. https://doi.org/10.1002/humu.23282

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. / Marom, Ronit; Jain, Mahim; Burrage, Lindsay C.; Song, I-Wen; Graham, Brett H.; Brown, Chester W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Gunter, Andrew T.; Kaplan, Julie D.; Gavrilova, Ralitza H.; Shinawi, Marwan; Rosenfeld, Jill A.; Bae, Yangjin; Tran, Alyssa A.; Chen, Yuqing; Lu, James T.; Gibbs, Richard A.; Eng, Christine; Yang, Yaping; Rousseau, Justine; de Vries, Bert B. A.; Campeau, Philippe M.; Lee, Brendan.

In: Human Mutation, Vol. 38, No. 10, 10.2017, p. 1365-1371.

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

TY - JOUR

T1 - Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

AU - Marom, Ronit

AU - Jain, Mahim

AU - Burrage, Lindsay C.

AU - Song, I-Wen

AU - Graham, Brett H.

AU - Brown, Chester W.

AU - Stevens, Servi J. C.

AU - Stegmann, Alexander P. A.

AU - Gunter, Andrew T.

AU - Kaplan, Julie D.

AU - Gavrilova, Ralitza H.

AU - Shinawi, Marwan

AU - Rosenfeld, Jill A.

AU - Bae, Yangjin

AU - Tran, Alyssa A.

AU - Chen, Yuqing

AU - Lu, James T.

AU - Gibbs, Richard A.

AU - Eng, Christine

AU - Yang, Yaping

AU - Rousseau, Justine

AU - de Vries, Bert B. A.

AU - Campeau, Philippe M.

AU - Lee, Brendan

PY - 2017/10

Y1 - 2017/10

KW - ACTL6A

KW - BAF complex

KW - intellectual disability

KW - speech delay

KW - ACTIN-RELATED PROTEINS

KW - COFFIN-SIRIS SYNDROME

KW - CHROMATIN-REMODELING COMPLEX

KW - BARAITSER-WINTER SYNDROME

KW - DE-NOVO MUTATIONS

KW - MENTAL-RETARDATION

KW - NUCLEAR ACTIN

KW - HAPLOINSUFFICIENCY CAUSES

KW - SWI/SNF COMPLEX

KW - GENE

U2 - 10.1002/humu.23282

DO - 10.1002/humu.23282

M3 - Article

C2 - 28649782

VL - 38

SP - 1365

EP - 1371

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 10

ER -