X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defe...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2001
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| _version_ | 1797089603413344256 |
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| author | Christie, P Harding, B Nesbit, M Whyte, M Thakker, R |
| author_facet | Christie, P Harding, B Nesbit, M Whyte, M Thakker, R |
| author_sort | Christie, P |
| collection | OXFORD |
| description | X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions. We have therefore investigated 11 unrelated X-linked hypophosphatemia patients in whom coding region mutations had been excluded, for intronic mutations that may lead to mRNA splicing abnormalities, by the use of lymphoblastoid RNA and RT-PCRs. One X-linked hypophosphatemia patient was found to have 3 abnormally large transcripts, resulting from 51-bp, 100-bp, and 170-bp insertions, all of which would lead to missense peptides and premature termination codons. The origin of these transcripts was a mutation (g to t) at position +1268 of intron 7, which resulted in the occurrence of a high quality novel donor splice site (ggaagg to gtaagg). Splicing between this novel donor splice site and 3 preexisting, but normally silent, acceptor splice sites within intron 7 resulted in the occurrences of the 3 pseudoexons. This represents the first report of PHEX pseudoexons and reveals further the diversity of genetic abnormalities causing X-linked hypophosphatemia. |
| first_indexed | 2024-03-07T03:06:25Z |
| format | Journal article |
| id | oxford-uuid:b2af7073-b055-4f10-b8d1-169147553d9d |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:06:25Z |
| publishDate | 2001 |
| record_format | dspace |
| spelling | oxford-uuid:b2af7073-b055-4f10-b8d1-169147553d9d2022-03-27T04:13:30ZX-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b2af7073-b055-4f10-b8d1-169147553d9dEnglishSymplectic Elements at Oxford2001Christie, PHarding, BNesbit, MWhyte, MThakker, RX-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions. We have therefore investigated 11 unrelated X-linked hypophosphatemia patients in whom coding region mutations had been excluded, for intronic mutations that may lead to mRNA splicing abnormalities, by the use of lymphoblastoid RNA and RT-PCRs. One X-linked hypophosphatemia patient was found to have 3 abnormally large transcripts, resulting from 51-bp, 100-bp, and 170-bp insertions, all of which would lead to missense peptides and premature termination codons. The origin of these transcripts was a mutation (g to t) at position +1268 of intron 7, which resulted in the occurrence of a high quality novel donor splice site (ggaagg to gtaagg). Splicing between this novel donor splice site and 3 preexisting, but normally silent, acceptor splice sites within intron 7 resulted in the occurrences of the 3 pseudoexons. This represents the first report of PHEX pseudoexons and reveals further the diversity of genetic abnormalities causing X-linked hypophosphatemia. |
| spellingShingle | Christie, P Harding, B Nesbit, M Whyte, M Thakker, R X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title | X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title_full | X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title_fullStr | X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title_full_unstemmed | X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title_short | X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. |
| title_sort | x linked hypophosphatemia attributable to pseudoexons of the phex gene |
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