{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:11:47Z","timestamp":1791137507872,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,8]]},"abstract":"<jats:p>Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and other systemic manifestations (hearing loss, cleft palate, epiphyseal dysplasia, and premature osteoarthritis). As with other dominantly inherited conditions, the clinical phenotype of Stickler syndrome varies considerably. To date, all mutations have been located in the type II procollagen (COL2A1) gene. Analysis of a C--&gt;T mutation we had identified previously, in COL2A1 gene in exon 40, in a three generation pedigree showed the loss of a cleavage site for the TaqI restriction enzyme. We designed a rapid PCR based restriction enzyme assay to detect this mutation and used it to establish the diagnosis in a neonate from the same pedigree, presenting with the first occurrence of the Pierre-Robin sequence in the family and minimal ocular findings. These results underline the potential diagnostic value of many as yet undetected DNA mutations in families affected with Stickler syndrome, since the variability of the phenotype can impede accurate diagnosis, appropriate genetic counselling, and effective intervention and prophylactic treatment for affected people.<\/jats:p>","DOI":"10.1136\/jmg.33.8.678","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"678-681","source":"Crossref","is-referenced-by-count":14,"title":["PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome."],"prefix":"10.1136","volume":"33","author":[{"given":"N N","family":"Ahmad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D M","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E H","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W S","family":"Tasman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,8,1]]},"reference":[{"key":"ref_1","first-page":"43355","article-title":"Hereditary progressive arthro-ophthalmopathy","volume-title":"Mayo Clin Proc 1965","volume":"40","author":"Stickler, G.B.; Belau, P.G.; Farrell, F.J.","unstructured":"Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:43355."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1056\/NEJM197203092861020","article-title":"The Stickler syndrome","volume":"286","author":"Opitz, J.M.; France, T.; Hermann, J.; Springer, J.W.","year":"1972","unstructured":"Opitz JM, France T, Hermann J, Springer JW. The Stickler syndrome. N Englj Med 1972;286:546-7.","journal-title":"N Englj Med"},{"key":"ref_3","first-page":"876","article-title":"Hereditary progressive arthro-ophthalmopathy of Stickler","volume":"88","author":"Blair, N.P.; Albert, D.M.; Lieberfarb, R.M.; Hirose, T.","year":"1993","unstructured":"Blair NP, Albert DM, Lieberfarb RM, Hirose T. Hereditary progressive arthro-ophthalmopathy of Stickler. 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A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthroophthalmopathy) is also a premature termination codon. Am3rHum Genet 1993;52:39-45."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1006\/geno.1993.1306","article-title":"A fourth example suggests premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome. Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis","volume":"17","author":"Ritvaniemi, P.; Ignatius, H.J.; Kivirrikko, K.I.; Prockop, D.J.; AlaKokko, L.","year":"1993","unstructured":"Ritvaniemi P, Ignatius HJ, Kivirrikko KI, Prockop DJ, AlaKokko L. A fourth example suggests premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome. Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. 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