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Outfoxed by RBFOX1 ‐A caution about ascertainment bias
Author(s) -
Kamien Benjamin,
Lionel Anath C.,
Bain Nicole,
Scherer Stephen W.,
Hunter Matthew
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36458
Subject(s) - locus (genetics) , autism , genetics , gene duplication , biology , copy number variation , autism spectrum disorder , developmental disorder , gene , psychology , genome , developmental psychology
We report on two patients with intragenic deletions of RBFOX1 and one patient with an intragenic duplication of RBFOX1 . These patients, by report, all had autism spectrum disorder and/or developmental delay and had strong family histories of these conditions. We initially hypothesized that RBFOX1 was another susceptibility locus for autism spectrum disorder or developmental delay. However, epidemiological evidence examining large numbers of individuals did not support this hypothesis and the data presented here suggests that RBFOX1 intragenic copy number variants are not pathogenic. This contradicts previous reports that examined smaller numbers of patients and controls. © 2014 Wiley Periodicals, Inc.