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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Fig. 1

a. Schematic representation of the CRYAA mutational spectrum. The upper and lower sections show the position of the exons and the protein structure with three CRYAA protein domains, respectively. The two novel stop-loss variants associated with a complex phenotype of congenital aphakia are represented in red. The pathogenic variants previously described in the literature for congenital cataracts or congenital cataract–microcornea syndrome are represented in black and orange, respectively. The number and the type of variants located in each amino acid residue are also indicated. Pedigrees and familial segregation of the two families (b and c) carrying de novo run-on mutations in CRYAA. Arrows indicate the probands (P); wt/wt represents wild-type individuals; mut/wt indicates heterozygous individuals

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