PMC9023866_01
(A) Family pedigree and (B) patient's facial phenotype: deep-set eyes, palpebral ptosis, triangular face, and thin lips.
fgene-13-870233-g001.jpg
PMC9023866_02_fgene-13-870233-g001.jpg
F1
At 8 y of age, the patient had a particular phenotype with dysmorphic facial features (Figure 1B), triangular face, mild parietal bossing, deep-set eyes, and bilateral asymmetric ptosis.
PMC9023866_02
(A) Family pedigree and (B) patient's facial phenotype: deep-set eyes, palpebral ptosis, triangular face, and thin lips.
fgene-13-870233-g001.jpg
PMC9023866_02_fgene-13-870233-g001.jpg
F1
At 8 y of age, the patient had a particular phenotype with dysmorphic facial features (Figure 1B), triangular face, mild parietal bossing, deep-set eyes, and bilateral asymmetric ptosis.
PMC9023866_03
SD-OCT images from horizontal cross section through the retina showed in both eyes (A) left eye and (B) right eye: increased central foveal thickness (CFT was 251 mum for the left eye and 250 mum for the right eye), absence of the foveal depression, preservation of the inner retinal layers in the fovea (foveal hypoplasia), intact ellipsoid zone (EZ) in the fovea, disruption areas in the external limiting membrane (ELM), decreased outer nuclear layer (ONL) thickness, and weak delimitation of outer segments of photoreceptors and choroidal thinning at the nasal extremity in the retinal pigment epithelium (RPE).
fgene-13-870233-g002.jpg
PMC9023866_03_fgene-13-870233-g002.jpg
F2
SD-OCT images from horizontal cross section through the retina showed foveal hypoplasia, conservation of inner retinal layers, and alterations of the external layers and choroidal thinning at the nasal extremity (Figure 2).
PMC9023866_04
Sequence image for the DNAJC21 gene: NM_001012339.3:c.148C>T and NM_001012339.3:c.643_644delinsTTT from patient's whole-genome sequencing.
fgene-13-870233-g003.jpg
PMC9023866_04_fgene-13-870233-g003.jpg
F3
Sequence analysis and deletion/duplication testing in a panel of 207 genes (2019) for immunodeficiencies (negative); and exome analysis performed in 2016 (negative). Solo whole-genome sequencing performed on DNA extracted from peripheral blood of the patient, using the Illumina platform (Novogene ), in 2020, identified two novel, pathogenic variants, in the DNAJC21 gene: NM_001012339.3:c.148C>T (stopgain) and c.643_644delinsTTT (frameshift) (Figure 3).
PMC9023866_05