Reports outline stickler syndrome study results from Addenbrooke's Hospital
2007 APR 9 -- Investigators publish new data in the report "Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright hereditary osteodystrophy which was inherited from her mother and type 1 Stickler syndrome which was a new mutation," investigators in Cambridge, the United Kingdom report. "The combination of manifestations from the two syndromes had resulted in initial diagnostic confusion. Diagnosis of the latter syndrome was made only following ophthalmic examination which documented the presence of a membranous vitreous anomaly characteristic of type 1 Stickler syndrome. Subsequent confirmation was achieved by mutation analysis of the COL2A1 gene. The propositus in case 2 inherited Treacher Collins syndrome paternally and type 2 Stickler syndrome maternally. The overlap of facial anomalies may have resulted in a more severe phenotype for the patient. The diagnosis of Stickler syndrome in the propositus was confirmed initially by vitreous assessment and later by demonstration of mutation in the COL11A1 gene," wrote A. Ang and colleagues, Addenbrooke's Hospital. The researchers concluded: "These two patients highlight the key role of vitreous examination and vitreoretinal phenotyping in the differential diagnosis of Stickler syndrome and its subtypes in cases where the clinical picture is complicated by double heterozygosity." Ang and colleagues published their study in American Journal of Medical Genetics Part A (Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. American Journal of Medical Genetics Part A, 2007;143(6):604-7). For additional information, contact A. Ang, Addenbrooke's Hospital, Vitreoretinal Service, Cambridge, UK. The publisher of the American Journal of Medical Genetics Part A can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United Kingdom, Cambridge, Diagnostics, Stickler Syndrome. This article was prepared by Gastroenterology Week editors from staff and other reports. Copyright 2007, Gastroenterology Week via NewsRx.com.
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