Mutation Analysis of Congenital Cataracts in Indian Families: Identification of SNPs and a New Causative Allele inCRYBB2Gene

Abstract

Exon 6 of CRYBB2 appears to be a critical region susceptible for mutations leading to lens opacity.

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P

“…The functional candidate gene PAX6 was amplified by PCR [7] CRYBB2 and GJA8 were amplified as described previously [16,30]; the primer and PCR conditions for the amplification of the three exons of CRYAA are listed in Table 1. OA1 and P exons were amplified using primers according to [28] and [18], respectively.…”

“…Crystallins are considered to act as structural proteins mainly in the lens; however, some of them have also been detected in other ocular tissues and other organs (for a review see [8]). Even if the crystallins are recognized as highly conserved proteins among the vertebrate species, a high number of polymorphisms exist in the human population [12,30,31], and among mouse strains [10]. Further structural proteins in the lens represent membrane proteins.…”

The genetic and molecular basis of congenital cataract

“…The IVS3 + 1G → A mutation has been described in two unrelated families and cause different cataract phenotypes; lamellar, and sutural cataract in an Indian family, and nuclear cataract in an Australian family (34) . To the CRYBB2 gene three mutations were identified (Table 1), Q155X, D128V, and W151C, the first mutation is predicted to remove the final 51 amino acids, resulting in an unstable molecule (35) . Biochemically, the ϒ-crystallins are characterized as monomers with a molecular mass of 21 kDa, and 173-174 amino acid residues long.…”

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

“…Mutations in the CRYBB2 gene (OMIM 123620) have been associated with HCCs. Presently, there are 12 missense mutations [Santhiya et al, 2004[Santhiya et al, , 2010Pauli et al, 2007;Lou et al, 2009;Mothobi et al, 2009;Wang et al, 2011;Yao et al, 2011;Weisschuh et al, 2012;Chen et al, 2013;Faletra et al, 2013;Gillespie et al, 2014;Sun et al, 2014] and 2 nonsense mutations, p.Q155 * [Litt et al, 1997;Gill et al, 2000;Vanita et al, 2001;Yao et al, 2005;Bateman et al, 2007;Devi et al, 2008;Li et al, 2008;Wang et al, 2009] and p.Y159 * [Hansen et al, 2009] (table 1). Both types of mutation present clinical variability [Shiels et al, 2010].…”