{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:17:42Z","timestamp":1783970262228,"version":"3.55.0"},"reference-count":28,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.<\/jats:p>","DOI":"10.1136\/jmg.35.10.806","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"806-812","source":"Crossref","is-referenced-by-count":52,"title":["The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies."],"prefix":"10.1136","volume":"35","author":[{"given":"H E","family":"Cunliffe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L A","family":"McNoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T A","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H G","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M R","family":"Eccles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","first-page":"697","article-title":"Zum krankheitsbild der Handmannschen sehnervenanomalie: windenbluten-(Morning Glory) syndrom?","volume":"170","author":"Reiger, G.","year":"1977","unstructured":"Reiger G. Zum krankheitsbild der Handmannschen sehnervenanomalie: windenbluten-(Morning Glory) syndrom? Klin MblAugenheilkd 1977;170:697-706. 8.","journal-title":"Klin MblAugenheilkd"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.1320290318","article-title":"Optic nerve coloboma associated with renal disease","volume":"29","author":"Weaver, R.G.; Cashwell, L.F.; Lorentz, W.; Whiteman, D.; Geisinger, K.R.; Ball, M.","year":"1988","unstructured":"Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M. Optic nerve coloboma associated with renal disease. Am 7Med Genet 1988;29:597-605.","journal-title":"Am 7Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1002\/ajmg.1320430415","article-title":"Joubert syndrome: a review","volume":"43","author":"Saraiva, J.M.; Baraitser, M.","year":"1992","unstructured":"Saraiva JM, Baraitser M. Joubert syndrome: a review. 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Report of 11 patients and delineaa26 ation of the clinical picture","volume":"57","author":"Schinzel, A.; Schmid, W.; Fraccaro, M.","year":"1981","unstructured":"Schinzel A, Schmid W, Fraccaro M, et al. The 'cat eye syndrome': dicentric small marker chromosome probably derived from a 22 (tetrasomy 22pter;ql 1) associated with a characteristic phenotype. Report of 11 patients and delineaa26 ation of the clinical picture. Hum Genet 1981;57:148-58.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1093\/hmg\/4.11.2183","article-title":"Eccles aa43 MR. Mutation of PAX2 in two siblings with renalcoloboma syndrome","volume":"4","author":"Sanyanusin, P.; McNoe, L.A.; Sullivan, M.J.; Weaver, R.G.","year":"1995","unstructured":"Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles aa43 MR. Mutation of PAX2 in two siblings with renalcoloboma syndrome. Hum Mol Genet 1995;4:2183-4.","journal-title":"Hum Mol Genet"},{"key":"ref_9","first-page":"9","article-title":"Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux","volume":"188","author":"Sanyanusin, P.; Schimmenti, L.A.; McNoe, L.A.","year":"1995","unstructured":"Sanyanusin P, Schimmenti LA, McNoe LA, et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995; aa188 9:358-64.","journal-title":"Nat Genet"},{"key":"ref_10","first-page":"869","article-title":"Further translocation delineation of the renal-coloboma syndrome in patients X_ -~~~~~~~~~~~~~~~~ with extreme variability of phenotype and identical PAX2 mutations","volume":"60","author":"Schimmenti, L.A.; Cunliffe, H.E.; McNoe, L.A.","year":"1997","unstructured":"Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further translocation delineation of the renal-coloboma syndrome in patients X_ -~~~~~~~~~~~~~~~~ with extreme variability of phenotype and identical PAX2 mutations. Am7Hum Genet 1997;60:869-78.","journal-title":"Am7Hum Genet"},{"key":"ref_11","first-page":"141","article-title":"PAX6 missense mutation in isolated foveal hypoplasia. Figure 2 Depiction of the location of mutations which have been identified to date withi?n PAX2 and the effect of these mutations on the predicted PAX2 protein products","volume":"13","author":"Azuma, N.; Nishina, S.; Yanagisawa, H.; Okuyama, T.; Yamada, M.","year":"1996","unstructured":"Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. PAX6 missense mutation in isolated foveal hypoplasia. Figure 2 Depiction of the location of mutations which have been identified to date withi?n PAX2 and the effect of these mutations on the predicted PAX2 protein products. The boxerd Nat Genet 1996;13:141-2.","journal-title":"The boxerd Nat Genet"},{"key":"ref_12","first-page":"44","article-title":"Three novel aniridia mutations in the human PAX6 gene. Hum segments represent the protein domains. The conserved paired box domain (black portion) the octapeptide sequence (dark grey portion), and the transactivation domain","volume":"6","author":"Martha, A.; Strong, L.C.; Ferrell, R.E.; Saunders, G.F.","year":"1995","unstructured":"Martha A, Strong LC, Ferrell RE, Saunders GF. Three novel aniridia mutations in the human PAX6 gene. Hum segments represent the protein domains. The conserved paired box domain (black portion) the octapeptide sequence (dark grey portion), and the transactivation domain (light grey Mutat 1995;6:44-9."},{"key":"ref_13","first-page":"427","article-title":"Read AP. PAX genes. Curr Opin Genet Dev portion) are shown. Frameshifted sequences in the mutated protein are depicted by mid grn ey portions. WT is the normal wild type protein. A is the mutation identified in the present study, with a single base deletion at amino acid 23 which results in a frameshift and a truncated protein","volume-title":"depict the predicted protein ofpreviously identified mutations. \"l\" The mutation in B is a single base insertion at amino acid position 26.16 19 The mutation in C is a 22 base deletion at amino acid position 43. \" The mutation in D ii","volume":"4","author":"Strachan, T.","year":"1994","unstructured":"Strachan T, Read AP. PAX genes. Curr Opin Genet Dev portion) are shown. Frameshifted sequences in the mutated protein are depicted by mid grn ey portions. WT is the normal wild type protein. A is the mutation identified in the present study, with a single base deletion at amino acid 23 which results in a frameshift and a truncated protein. B,C, D, and E depict the predicted protein ofpreviously identified mutations. \"l\" The mutation in B is a single base insertion at amino acid position 26.16 19 The mutation in C is a 22 base deletion at amino acid position 43. \" The mutation in D ii 1994;4:427-38."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1242\/dev.109.4.787","article-title":"Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system","volume":"109","author":"Dressler, G.R.; Deutsch, U.; Chowdhury, K.; Nornes, H.O.; Gruss, P.","year":"1990","unstructured":"Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 1990;109:787-95.","journal-title":"Development"},{"key":"ref_15","first-page":"797","article-title":"All of these point mutations are predicted to cause a frameshift and truncated protein product. Note, that the predicted proteins in","volume":"109","author":"A, B, and","year":"1990","unstructured":"All of these point mutations are predicted to cause a frameshift and truncated protein product. Note, that the predicted proteins in A, B, and C lack much of the paired DNA binding domain (black), as well as the octapeptide domain and COOH-terminal portions of PAX2 proteiu n' whereas the protein in D lacks only the octapeptide and remaining COOH-terminal portions. The mutation in E is a translocation (10;13) (q24;ql2.3) with a breakpoint in ing murine neurogenesis. Development 1990;109:797-809.","journal-title":"Development; C lack much of the paired DNA binding domain (black), as well as the octapeptide domain and COOH-terminal portions of PAX2 proteiu n' whereas the protein in D lacks only the octapeptide and remaining COOH-terminal portions. The mutation in"},{"key":"ref_16","first-page":"279","article-title":"Expression of the PAX2 gene in human fetal kidney and Wilms'","volume":"3","author":"Eccles, M.R.; Walfis, L.J.; Fidler, A.E.; Spurr, N.K.; Goodfellow, P.J.; Reeve, A.E.","year":"1992","unstructured":"Eccles MR, Walfis LJ, Fidler AE, Spurr NK, Goodfellow PJ, Reeve AE. Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. Ce\/l Growth Diff 1992;3:279-89.","journal-title":"tumor. Ce\/l Growth Diff"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1006\/geno.1994.1506","article-title":"Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 the middle of the PAX2 gene,'8 probably within either intron 3 or 4, which would result in an abnormal, and possibly truncated protein. locus","volume":"23","author":"Keller, S.A.; Jones, J.M.; Boyle, A.","year":"1994","unstructured":"Keller SA, Jones JM, Boyle A, et al. 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PCR Methods and Applications 1991;7:34-8.","journal-title":"PCR Methods and Applications"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.10.806","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:02:47Z","timestamp":1759687367000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.10.806"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":28,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1998,10,1]]},"published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1136\/jmg.35.10.806"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.10.806","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}