Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia How to cite this article: Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, Salem AK, Rayner SA, Sampat KM, Krafchak CM, Richards JE. 2007. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet Part A 143A:2549–2556.
dc.contributor.author | Aldave, Anthony J. | en_US |
dc.contributor.author | Yellore, Vivek S. | en_US |
dc.contributor.author | Yu, Fei | en_US |
dc.contributor.author | Bourla, Nirit | en_US |
dc.contributor.author | Sonmez, Baris | en_US |
dc.contributor.author | Salem, Andrew K. | en_US |
dc.contributor.author | Rayner, Sylvia A. | en_US |
dc.contributor.author | Sampat, Kapil M. | en_US |
dc.contributor.author | Krafchak, Charles M. | en_US |
dc.contributor.author | Richards, Julia E. | en_US |
dc.date.accessioned | 2007-12-04T18:37:50Z | |
dc.date.available | 2008-11-05T15:05:43Z | en_US |
dc.date.issued | 2007-11-01 | en_US |
dc.identifier.citation | Aldave, Anthony J.; Yellore, Vivek S.; Yu, Fei; Bourla, Nirit; Sonmez, Baris; Salem, Andrew K.; Rayner, Sylvia A.; Sampat, Kapil M.; Krafchak, Charles M.; Richards, Julia E. (2007). "Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia How to cite this article: Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, Salem AK, Rayner SA, Sampat KM, Krafchak CM, Richards JE. 2007. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet Part A 143A:2549–2556. ." American Journal of Medical Genetics Part A 143A(21): 2549-2556. <http://hdl.handle.net/2027.42/57405> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/57405 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17935237&dopt=citation | |
dc.description.abstract | Mutations in the two-handed zinc-finger homeodomain transcription factor gene ( TCF8 ) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of TCF8 in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a TCF8 mutation, and in 100 control individuals. Eight different pathogenic mutations were identified in eight probands: four frameshift (c.953_954insA, c.1506dupA, c.1592delA, and c.3012_3013delAG); three nonsense (Gln12X, Gln214X, Arg325X); and one missense (Met1Arg). Screening of TCF8 in affected and unaffected family members in six families demonstrated that each identified mutation segregated with the disease phenotype in each family; two probands did not have additional family members available for analysis. None of the eight TCF8 mutations was identified in 200 control chromosomes. The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with TCF8 mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a TCF8 mutation and in unaffected individuals. Therefore, PPCD is associated with TCF8 mutations in one quarter of affected families in this study, or about one third of all PPCD families that have been screened thus far. In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias. © 2007 Wiley-Liss, Inc. | en_US |
dc.format.extent | 218472 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia How to cite this article: Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, Salem AK, Rayner SA, Sampat KM, Krafchak CM, Richards JE. 2007. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet Part A 143A:2549–2556. | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Ophthalmology, W.K. Kellogg Eye Center, The University of Michigan, Ann Arbor | en_US |
dc.contributor.affiliationum | Department of Ophthalmology, W.K. Kellogg Eye Center, The University of Michigan, Ann Arbor | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles ; Assistant Professor. ; The Jules Stein Eye Institute, 100 Stein Plaza, UCLA; Los Angeles, CA 90095. | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.contributor.affiliationother | The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles | en_US |
dc.identifier.pmid | 17935237 | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/57405/1/31978_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.31978 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.