A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

Figure 1

Identification of a de novo noncoding RARB gene variant (NM_000965.4: c.157+1895G>A). (a) Clinical image from the proband showing bilateral Peters anomaly and congenital glaucoma, right eye megalocornea and severe iris hypoplasia resembling aniridia, and left microphthalmia and microcornea. (b) Pedigree showing affected individual (arrow) and genetic testing results. (c) Sequence traces for proband and both parents (red arrow indicates the variant). (d) Schematic of the RARB gene including the location of the c.157+1895G>A variant within intron 1-2 (red arrow) and locations of previously reported human disease-associated variants (missense and truncation/frameshift coding variants are indicated with black arrows above and below the gene schematic, respectively). Exonic sequences are represented as open boxes; intronic sequences are represented as dashed lines; exon and intron sizes are indicated in base pairs. Start/stop codons are indicated with arrowheads. WT: wild-type allele.

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