Fig. 2: Schematic illustration of chromosome 22q genomic deletion in PKCC212. | Human Genome Variation

Fig. 2: Schematic illustration of chromosome 22q genomic deletion in PKCC212.

From: A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Fig. 2

a A 228-kb genomic deletion of chromosome 22q was identified in PKCC212. b The deletion in affected individuals of PKCC212 removes exon 6 of CRYBB2 (ENST00000651629.1), LRP5 L (ENST00000402859.6), and the first five exons of the CRYBB2 pseudogene (CRYBB2P1). Amplification results using the primer pair BB2Int5_BB2P1Ex6 (Supplementary Table 2) identified a 1832-bp fragment of chromosome 22q. Of this 1832-bp region, 353 and 1145 bp aligned with CRYBB2 and CRYBB2P1, respectively; 334 bp remained indistinguishable due to overwhelming similarity between CRYBB2 and CRYBB2P1. Note: The CRYBB2P1 transcripts, i.e., NR_ 033733.1 and NR_ 033734.1, consist of 5 and 6 exons, respectively. Exons 4 and 5 in the CRYBB2P1 transcripts NR_ 033733.1 and NR_ 033734.1 are homologous to CRYBB2 exon 6 harboring the p.Gln155* mutation. Note: Transcripts are as per Genome Reference Consortium Human Build 38 patch release 12 (GRCh38.p12) assembly.

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