Fig. 2: Pedigree and molecular genetics. | European Journal of Human Genetics

Fig. 2: Pedigree and molecular genetics.

From: Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

Fig. 2

A Pedigree of the family. Filled symbols indicate affected individuals. Segregation of the c.615-2A > C variant in the family is indicated by + (wild type) and – (variant). B Sequencing chromatograms showing the splice-site variant c.615-2A > C in RNH1 indicated by an arrow. C Schematic illustration of the exon-intron structure of RNH1 (NM_203387.3), including the novel splice-site variant identified in this study (in red, c.615-2A > C). Domains encoded by each exon are indicated.

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