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Gamma-D crystallin gene mutation causes autosomal dominant congenital cerulean cataracts

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Researchers from Morocco and Paris (France) have mapped the gene responsible for autosomal dominant congenital cerulean cataract (ADCCC) by studying a family of 19 affected and 24 unaffected subjects spanning four generations.

The gene was localised to a region of chromosome 2q33-q35, spanning the γ-crystallin gene (CRYG) cluster. This is the third locus identified in ADCCC, and characterises a phenotype with early onset (diagnosable at birth) and rapid progression.

All affected members of this kindred had a C>A transversion in exon 2 of the CRYGD gene. This class of genes encodes a superfamily of major soluble structural lens proteins. The particular transversion found results in a proline to threonine substitution at amino acid 23 in the first of the four Greek key motifs that characterise the protein. This may alter the protein folding or decrease the protein’s thermodynamic stability or solubility.

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Figure 1

Schematic view of the protein fold determined by x ray crystallography centred on residue P23 and looking along β-sheet 2 of the normal CRYGD protein.

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