PURPOSE: Primary congenital glaucoma (isolated trabeculodysgensis, PCG) generally presents between birth and 3 years of age. Recently, mutations in Latent Transforming Growth Factor (TGF)-beta Binding Protein 2 (LTBP2) have been reported in several families that were diagnosed with PCG, who actually had a more complex ocular phenotype with ectopia lentis and Marfanoid features. We screened this gene for mutations in the original Turkish GLC3C-linked PCG family and in a group of CYP1B1-negative British PCG cases and their matched normal control subjects. METHODS: The 36-coding exons of the LTBP2 gene were sequenced in 94 familial or sporadic CYP1B1-negative PCG cases and 96 matched normal control subjects. RESULTS: No disease-causing mutations were identified in the original GLC3C-linked family. Screening of LTBP2 in 94 PCG and 96 control subjects identified three novel synonymous variations (L429L, P680P, S1031S) in 12 PCG and seven control subjects. A novel heterozygous missense mutation (R538W) was also identified in 1 of 90 PCG cases that is unlikely to be disease-causative. CONCLUSIONS: LTBP2 mutations were not found in the Turkish GLC3C-linked PCG family or in 94 British CYP1B1-negative PCG cases. Our data suggest that LTBP2 mutations are not a significant cause for isolated trabeculodysgenesis.
PURPOSE:Primary congenital glaucoma (isolated trabeculodysgensis, PCG) generally presents between birth and 3 years of age. Recently, mutations in Latent Transforming Growth Factor (TGF)-beta Binding Protein 2 (LTBP2) have been reported in several families that were diagnosed with PCG, who actually had a more complex ocular phenotype with ectopia lentis and Marfanoid features. We screened this gene for mutations in the original Turkish GLC3C-linked PCG family and in a group of CYP1B1-negative British PCG cases and their matched normal control subjects. METHODS: The 36-coding exons of the LTBP2 gene were sequenced in 94 familial or sporadic CYP1B1-negative PCG cases and 96 matched normal control subjects. RESULTS: No disease-causing mutations were identified in the original GLC3C-linked family. Screening of LTBP2 in 94 PCG and 96 control subjects identified three novel synonymous variations (L429L, P680P, S1031S) in 12 PCG and seven control subjects. A novel heterozygous missense mutation (R538W) was also identified in 1 of 90 PCG cases that is unlikely to be disease-causative. CONCLUSIONS:LTBP2 mutations were not found in the Turkish GLC3C-linked PCG family or in 94 British CYP1B1-negative PCG cases. Our data suggest that LTBP2 mutations are not a significant cause for isolated trabeculodysgenesis.
Authors: Carly J Lewis; Adam Hedberg-Buenz; Adam P DeLuca; Edwin M Stone; Wallace L M Alward; John H Fingert Journal: Hum Mol Genet Date: 2017-08-01 Impact factor: 6.150
Authors: Mônica Barbosa de Melo; Anil K Mandal; Ivan M Tavares; Mohammed Hasnat Ali; Meha Kabra; José Paulo Cabral de Vasconcellos; Sirisha Senthil; Juliana M F Sallum; Inderjeet Kaur; Alberto J Betinjane; Christiane R Moura; Jayter S Paula; Karita A Costa; Mansoor Sarfarazi; Mauricio Della Paolera; Simone Finzi; Victor E F Ferraz; Vital P Costa; Rubens Belfort; Subhabrata Chakrabarti Journal: PLoS One Date: 2015-05-15 Impact factor: 3.240
Authors: Alice E Davidson; Sek-Shir Cheong; Pirro G Hysi; Cristina Venturini; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Nicole Carnt; Jessica C Gardner; Hala Hassan; Else Gade; Lisa Kearns; Anne Marie Jelsig; Marie Restori; Tom R Webb; David Laws; Michael Cosgrove; Jens M Hertz; Isabelle Russell-Eggitt; Daniela T Pilz; Christopher J Hammond; Stephen J Tuft; Alison J Hardcastle Journal: PLoS One Date: 2014-08-05 Impact factor: 3.240