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Molecular Genetics of Congenital Cataract

Mascarenhas, Roshan and Prasada, Shama K and Gopinath, PM and Satyamoorthy, K (2017) Molecular Genetics of Congenital Cataract. In: Human  Genomics and Applications. Narendra Publishing House, Delhi, India, pp. 101-117.

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Abstract

Molecular analysis of congenital cataract has provided  valuable insights into genes regulating  normal lens development. So far, a remarkable number of mutations have been characterized in  several genes both in human and mouse. In contrast to age related  cataract genetic association  of congenital cataract is more robust and damaging. Therefore, the increasing number of evidence of role of several genes helps in quick  and  improved  diagnosis to protect the sight of affected  children. In this chapter, several genes involved in normal lens functioning and their mutations have been discussed  with emphasis on the underlying molecular genetic basis rather than the clinical and  other etiological features. Therefore, the contents are organized  in the order of  categories of genes involved  in cataract formation. The major topic deals with nuclear gene mutations leading  to congenital cataracts. Since we are discussing  on molecular genetics of  congenital cataract the identified mutations listed are familial, bilateral type. This chapter will also  provide generalized information on mechanism of protein malfunction induced by gene mutations.

Item Type: Book Section
Uncontrolled Keywords: Congenital cataract; childhood blindness; crystallins; connexins; cytoskeletal  proteins; genetics  of cataract.
Subjects: Life Sciences > MLSC Manipal
Depositing User: KMC Library
Date Deposited: 10 Jun 2017 03:52
Last Modified: 10 Jun 2017 03:52
URI: http://eprints.manipal.edu/id/eprint/149029

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