Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mu...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-03-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC2832695?pdf=render |
| _version_ | 1811321386711384064 |
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| author | Stephen C Collins Brad Coffee Paul J Benke Elizabeth Berry-Kravis Fred Gilbert Ben Oostra Dicky Halley Michael E Zwick David J Cutler Stephen T Warren |
| author_facet | Stephen C Collins Brad Coffee Paul J Benke Elizabeth Berry-Kravis Fred Gilbert Ben Oostra Dicky Halley Michael E Zwick David J Cutler Stephen T Warren |
| author_sort | Stephen C Collins |
| collection | DOAJ |
| description | Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract.To more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence FMR1 in 51 unrelated males exhibiting several features characteristic of FXS but with normal CGG-repeat tracts of FMR1. One patient was identified with a deletion in FMR1, but none of the patients were found to have other conventional mutations.These data suggest that missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of FMR1 may be of clinically utility. |
| first_indexed | 2024-04-13T13:16:54Z |
| format | Article |
| id | doaj.art-01161e1cd4f142dab715df9545f057bd |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-13T13:16:54Z |
| publishDate | 2010-03-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-01161e1cd4f142dab715df9545f057bd2022-12-22T02:45:26ZengPublic Library of Science (PLoS)PLoS ONE1932-62032010-03-0153e947610.1371/journal.pone.0009476Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.Stephen C CollinsBrad CoffeePaul J BenkeElizabeth Berry-KravisFred GilbertBen OostraDicky HalleyMichael E ZwickDavid J CutlerStephen T WarrenFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract.To more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence FMR1 in 51 unrelated males exhibiting several features characteristic of FXS but with normal CGG-repeat tracts of FMR1. One patient was identified with a deletion in FMR1, but none of the patients were found to have other conventional mutations.These data suggest that missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of FMR1 may be of clinically utility.http://europepmc.org/articles/PMC2832695?pdf=render |
| spellingShingle | Stephen C Collins Brad Coffee Paul J Benke Elizabeth Berry-Kravis Fred Gilbert Ben Oostra Dicky Halley Michael E Zwick David J Cutler Stephen T Warren Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS ONE |
| title | Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. |
| title_full | Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. |
| title_fullStr | Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. |
| title_full_unstemmed | Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. |
| title_short | Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. |
| title_sort | array based fmr1 sequencing and deletion analysis in patients with a fragile x syndrome like phenotype |
| url | http://europepmc.org/articles/PMC2832695?pdf=render |
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