Version 1
: Received: 28 April 2022 / Approved: 30 April 2022 / Online: 30 April 2022 (03:34:17 CEST)
How to cite:
Gupta, V.; Panigrahi, A.; I Somarajan, B.; Gupta, S.; Tripathy, K.; Singh, A.; Sharma, A.; Pradhan, D.; Sharma, A. Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome . Preprints2022, 2022040310 (doi: 10.20944/preprints202204.0310.v1).
Gupta, V.; Panigrahi, A.; I Somarajan, B.; Gupta, S.; Tripathy, K.; Singh, A.; Sharma, A.; Pradhan, D.; Sharma, A. Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome . Preprints 2022, 2022040310 (doi: 10.20944/preprints202204.0310.v1).
Cite as:
Gupta, V.; Panigrahi, A.; I Somarajan, B.; Gupta, S.; Tripathy, K.; Singh, A.; Sharma, A.; Pradhan, D.; Sharma, A. Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome . Preprints2022, 2022040310 (doi: 10.20944/preprints202204.0310.v1).
Gupta, V.; Panigrahi, A.; I Somarajan, B.; Gupta, S.; Tripathy, K.; Singh, A.; Sharma, A.; Pradhan, D.; Sharma, A. Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome . Preprints 2022, 2022040310 (doi: 10.20944/preprints202204.0310.v1).
Abstract
Purpose: To investigate the molecular basis of congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome. Methods: We report ocular features of 3 girls with GAPO syndrome born of consanguineous marriage in a multi- generation consanguineous family. The proband (4year old girl) and her younger sibling (1 year old girl) were operated for bilateral congenital glaucoma in both eyes. The elder sibling (10year old female) had features of GAPO syndrome but did not manifest features of glaucoma. Results: A genetic evaluation using whole exome sequencing revealed a homozygous ANTXR1 mutation in all 3 affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense mutation in TGFBI gene was shared in the two siblings with congenital glaucoma and GAPO syndrome.Conclusions: Mutations in TGFBI gene could have a role in the pathogenesis of congenital glaucoma.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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