TY - JOUR
T1 - Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis
T2 - A case report and review of the literature
AU - Coffee, Bradford
AU - Ikeda, Morna
AU - Budimirovic, Dejan B.
AU - Hjelm, Lawrence N.
AU - Kaufmann, Walter E.
AU - Warren, Stephen T.
PY - 2008/5/15
Y1 - 2008/5/15
N2 - The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5′UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features compatible with, but not specific to, fragile X syndrome. A mosaic deletion of 1,013,395 bp was found using high-density X chromosome microarray analysis followed by sequencing of the deletion breakpoints. We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype.
AB - The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5′UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features compatible with, but not specific to, fragile X syndrome. A mosaic deletion of 1,013,395 bp was found using high-density X chromosome microarray analysis followed by sequencing of the deletion breakpoints. We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype.
KW - Deletion
KW - Fragile X syndrome
KW - Mental retardation
KW - Mosaic
KW - Social anxiety
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U2 - 10.1002/ajmg.a.32261
DO - 10.1002/ajmg.a.32261
M3 - Review article
C2 - 18412117
AN - SCOPUS:43049104170
VL - 146
SP - 1358
EP - 1367
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 10
ER -