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P. Bitoun, B. Benzacken, L. Benzacken, G.C. Black, J. Gaudelus; Clinical and Genetic Study of the Lenz Microphthalmia Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1831.
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Purpose: To study the clinical phenotype and genotype of a family affected with blindness, and Lenz Microphthalmia syndrome, a rare X linked disorder with microphthalmia and variable mental retardation Methods: We describe the phenotype and associated findings in 3 brothers with Lenz Microphthalmia syndrome; Dental fims will be obtained to look for radiculomegaly. High resolution caryotype and telomere analysis and sequencing of the BCOR gene involved with Lenz microphthalmia syndrome will be performed using lymphoblastoid cell lines from the patients and their mother obtained after informed consent. Closely linked microsatellite marker analysis will help confirm or rule out the involvment of the BCOR gene. Results: The older brother (28 years old)and the 2 younger twin brothers (24 years old) all show microphthalmia, blindness and an autistic spectrum phenotype without speech.One of the younger twins being more severely affected. There is no evidence for symptoms of the Nance Horan X linked phenotype syndrome which associates cataracts and dental anomalies not seen in this family. The older brother had a normal brain CT scan.The high resolution caryotype and telomere analysis was normal in all 3 affected brothers and mother. .Gene sequencing of the BCOR gene is in process. If it is negative, we will try to proceed to search for a second gene locus since there is one other unlinked family. Conclusions: This family has a phenotype consistent with the Lenz microphthalmia syndrome with mental retardation and an autistic spectrum phenotype.
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