Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge; Patrick S. Tarpey; Fatima Abidi; Sarah L. Ramsden; Sinitdhorn Rujirabanjerd; Jessica A. Murphy; Jackie Boyle; Marie Shaw; Alison Gardner; Anne Proos; Helen Puusepp; F. Lucy Raymond; Charles E. Schwartz; Roger E. Stevenson; Gill Turner; Michael Field; Randall S. Walikonis; Robert J. Harvey; Anna Hackett; P. Andrew Futreal; Michael R. Stratton; Jozef Gécz

doi:10.1038/ng.588

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge, Patrick S. Tarpey, Fatima Abidi, Sarah L. Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anne Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, Gill Turner, Michael Field, Randall S. Walikonis, Robert J. Harvey, Anna Hackett, P. Andrew FutrealMichael R. Stratton, Jozef Gécz

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

122 Citations (Scopus)

Abstract

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.

Original language	English
Pages (from-to)	486-488
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	6
DOIs	https://doi.org/10.1038/ng.588
Publication status	Published or Issued - Jun 2010
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Shoubridge, C., Tarpey, P. S., Abidi, F., Ramsden, S. L., Rujirabanjerd, S., Murphy, J. A., Boyle, J., Shaw, M., Gardner, A., Proos, A., Puusepp, H., Raymond, F. L., Schwartz, C. E., Stevenson, R. E., Turner, G., Field, M., Walikonis, R. S., Harvey, R. J., Hackett, A., ... Gécz, J. (2010). Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6), 486-488. https://doi.org/10.1038/ng.588

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title = "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability",

abstract = "The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.",

author = "Cheryl Shoubridge and Tarpey, {Patrick S.} and Fatima Abidi and Ramsden, {Sarah L.} and Sinitdhorn Rujirabanjerd and Murphy, {Jessica A.} and Jackie Boyle and Marie Shaw and Alison Gardner and Anne Proos and Helen Puusepp and Raymond, {F. Lucy} and Schwartz, {Charles E.} and Stevenson, {Roger E.} and Gill Turner and Michael Field and Walikonis, {Randall S.} and Harvey, {Robert J.} and Anna Hackett and Futreal, {P. Andrew} and Stratton, {Michael R.} and Jozef G{\'e}cz",

note = "Funding Information: We would like to express our gratitude to the participating individuals and families and to N. Briggs for assistance with statistical analysis. The work has been supported by the Australian National Health and Medical Research Council to J.G., the SMILE Foundation, the Women{\textquoteright}s and Children{\textquoteright}s Hospital Foundation, D. Harwood, US National Institutes of Health (HD26202) to C.E.S., the South Carolina Department of Disabilities and Special Needs (SCDDSN), the Medical Research Council (S.R. and R.J.H.), Action Medical Research and the Wellcome Trust for support under grant reference 077012/Z/05/Z.",

year = "2010",

month = jun,

doi = "10.1038/ng.588",

language = "English",

volume = "42",

pages = "486--488",

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Shoubridge, C, Tarpey, PS, Abidi, F, Ramsden, SL, Rujirabanjerd, S, Murphy, JA, Boyle, J, Shaw, M, Gardner, A, Proos, A, Puusepp, H, Raymond, FL, Schwartz, CE, Stevenson, RE, Turner, G, Field, M, Walikonis, RS, Harvey, RJ, Hackett, A, Futreal, PA, Stratton, MR & Gécz, J 2010, 'Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability', Nature Genetics, vol. 42, no. 6, pp. 486-488. https://doi.org/10.1038/ng.588

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AU - Rujirabanjerd, Sinitdhorn

AU - Murphy, Jessica A.

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AU - Shaw, Marie

AU - Gardner, Alison

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AU - Puusepp, Helen

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AU - Futreal, P. Andrew

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AU - Gécz, Jozef

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AB - The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Abstract

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