Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.
Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3997350?pdf=render |
| _version_ | 1819274248166834176 |
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| author | Michelle J Kim Ricardo F Frausto George O D Rosenwasser Tina Bui Derek J Le Edwin M Stone Anthony J Aldave |
| author_facet | Michelle J Kim Ricardo F Frausto George O D Rosenwasser Tina Bui Derek J Le Edwin M Stone Anthony J Aldave |
| author_sort | Michelle J Kim |
| collection | DOAJ |
| description | Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and qPCR were used to detect a hemizygous deletion in the PACD linkage interval containing 4 genes encoding small leucine-rich proteoglycans (SLRPs): KERA, LUM, DCN, and EPYC. Two other unrelated families with PACD also demonstrated deletion of these SLRPs, which play important roles in collagen fibrillogenesis and matrix assembly. Given that these genes are essential to the maintenance of corneal clarity and the observation that knockout murine models display corneal phenotypic similarities to PACD, we provide convincing evidence that PACD is associated with haploinsufficiency of these SLRPs. |
| first_indexed | 2024-12-23T23:05:24Z |
| format | Article |
| id | doaj.art-a9bd5432af274fb4a88281d91b39255f |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-23T23:05:24Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
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| series | PLoS ONE |
| spelling | doaj.art-a9bd5432af274fb4a88281d91b39255f2022-12-21T17:26:50ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0194e9503710.1371/journal.pone.0095037Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.Michelle J KimRicardo F FraustoGeorge O D RosenwasserTina BuiDerek J LeEdwin M StoneAnthony J AldavePosterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and qPCR were used to detect a hemizygous deletion in the PACD linkage interval containing 4 genes encoding small leucine-rich proteoglycans (SLRPs): KERA, LUM, DCN, and EPYC. Two other unrelated families with PACD also demonstrated deletion of these SLRPs, which play important roles in collagen fibrillogenesis and matrix assembly. Given that these genes are essential to the maintenance of corneal clarity and the observation that knockout murine models display corneal phenotypic similarities to PACD, we provide convincing evidence that PACD is associated with haploinsufficiency of these SLRPs.http://europepmc.org/articles/PMC3997350?pdf=render |
| spellingShingle | Michelle J Kim Ricardo F Frausto George O D Rosenwasser Tina Bui Derek J Le Edwin M Stone Anthony J Aldave Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. PLoS ONE |
| title | Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. |
| title_full | Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. |
| title_fullStr | Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. |
| title_full_unstemmed | Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. |
| title_short | Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. |
| title_sort | posterior amorphous corneal dystrophy is associated with a deletion of small leucine rich proteoglycans on chromosome 12 |
| url | http://europepmc.org/articles/PMC3997350?pdf=render |
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