Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
C Shoubridge, PS Tarpey, F Abidi, SL Ramsden…�- Nature�…, 2010 - nature.com
C Shoubridge, PS Tarpey, F Abidi, SL Ramsden, S Rujirabanjerd, JA Murphy, J Boyle…
Nature genetics, 2010•nature.comThe 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.
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.
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.
nature.com