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      Mutation analysis of 12 genes in Chinese families with congenital cataracts

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      , , , ,
      Molecular Vision
      Molecular Vision

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          Abstract

          Purpose

          To identify mutations in 12 genes in Chinese families with congenital cataracts.

          Methods

          Twenty five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin ( CRYAA), alpha B crystallin ( CRYAB), beta A1 crystallin ( CRYBA1), beta A4 crystallin ( CRYBA4), beta B1 crystallin ( CRYBB1), beta B2 crystallin ( CRYBB2), beta B3 crystallin ( CRYBB3), gamma C crystallin ( CRYGC), gamma D crystallin ( CRYGD), gamma S crystallin ( CRYGS), alpha 3 gap junction protein ( GJA3), and alpha 8 gap junction protein ( GJA8) genes. Novel variants were further evaluated in 96 normal controls.

          Results

          Nine mutations were identified in 10 of the 25 families (40%), including 5 novel (c.350_352delGCT in CRYAA, c.205C>T in CRYAB, c.106G>C in CRYGD, c.77A>G in CRYGS, c.1143_1165del23 in GJA3) and 4 known (c.292G>A in CRYAA; c.215+1G>A and c.272_274delGAG in CRYBA1, and c.176C>T in GJA3). All novel mutations were predicted to be pathogenic and were not present in 96 controls.

          Conclusions

          Mutations in the 12 genes encoding crystallins and connexins were responsible for 40% Chinese families with congenital cataracts. Our results enriched our knowledge on the molecular basis of congenital cataracts in Chinese population.

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          Most cited references59

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          Congenital cataracts and their molecular genetics.

          Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is particularly serious because it has the potential for inhibiting visual development, resulting in permanent blindness. Inherited cataracts represent a major contribution to congenital cataracts, especially in developed countries. While cataract represents a common end stage of mutations in a potentially large number of genes acting through varied mechanisms in practice most inherited cataracts have been associated with a subgroup of genes encoding proteins of particular importance for the maintenance of lens transparency and homeostasis. The increasing availability of more detailed information about these proteins and their functions and is making it possible to understand the pathophysiology of cataracts and the biology of the lens in general.
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            Cat-Map: putting cataract on the map

            Lens opacities, or cataract(s), may be inherited as a classic Mendelian disorder usually with early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many genetic forms of cataract have been described in mice and other animal models. Considerable progress has been made in mapping and identifying the genes and mutations responsible for inherited forms of cataract, and genetic determinants of age-related cataract are beginning to be discovered. To provide a convenient and accurate summary of current information focused on the increasing genetic complexity of Mendelian and age-related cataract we have created an online chromosome map and reference database for cataract in humans and mice (Cat-Map).
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              Molecular genetic basis of inherited cataract and associated phenotypes.

              Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents a significant proportion of cases and recently many causative genetic mutations have been identified. Inherited cataract is known to be clinically and genetically heterogeneous. Eleven clear-cut cataract phenotypes have been described. Cataract may be inherited as autosomal dominant, autosomal recessive, or X-linked recessive traits, and 12 loci and 15 specific genes associated with inherited isolated cataract have been identified to date; it is likely that more genes remain to be discovered. The identification of remaining genes will not only improve our understanding of the mechanism of cataract formation but will shed new light on the developmental biology and biochemistry of the lens. Furthermore, it is possible that some of these genes will be implicated in the more common age related cataract, which also has a genetic component to its etiology.
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                Author and article information

                Journal
                Mol Vis
                MV
                Molecular Vision
                Molecular Vision
                1090-0535
                2011
                16 August 2011
                : 17
                : 2197-2206
                Affiliations
                [1]State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
                Author notes
                Correspondence to: Qingjiong Zhang, Ophthalmic Genetics & Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University 54 Xianlie Road, Guangzhou 510060, China; Phone: (+86)-20-87330422; FAX: (+86)-20-87333271; email: qingjiongzhang@ 123456yahoo.com or zhangqji@ 123456mail.sysu.edu.cn
                Article
                238 2011MOLVIS00308
                3159683
                21866213
                7270525d-2857-45a3-b09a-338a1d54c65a
                Copyright © 2011 Molecular Vision.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 19 July 2011
                : 09 August 2011
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                Vision sciences
                Vision sciences

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