{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:42:18Z","timestamp":1789425738693,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T00:00:00Z","timestamp":1192147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the two\u2010handed zinc\u2010finger homeodomain transcription factor gene (<jats:italic>TCF8<\/jats:italic>) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of <jats:italic>TCF8<\/jats:italic> in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a <jats:italic>TCF8<\/jats:italic> 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 <jats:italic>TCF8<\/jats:italic> 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 <jats:italic>TCF8<\/jats:italic> mutations was identified in 200 control chromosomes. The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with <jats:italic>TCF8<\/jats:italic> mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a <jats:italic>TCF8<\/jats:italic> mutation and in unaffected individuals. Therefore, PPCD is associated with <jats:italic>TCF8<\/jats:italic> 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 <jats:italic>TCF8<\/jats:italic> mutations is associated with abdominal and inguinal hernias. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31978","type":"journal-article","created":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T22:46:34Z","timestamp":1192229194000},"page":"2549-2556","source":"Crossref","is-referenced-by-count":40,"title":["Posterior polymorphous corneal dystrophy is associated with <i>TCF8<\/i> gene mutations and abdominal hernia"],"prefix":"10.1002","volume":"143A","author":[{"given":"Anthony J.","family":"Aldave","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek 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