Table 1.
Phenotype information for individuals with DDB1 variants
| Individual | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 |
|---|---|---|---|---|---|---|---|---|
| Gender | female | female | male | female | female | male | male | female |
| Age at last assessment | 17 y | 9 y 2 m | 10 y 8 m | 3 y | 13 y | 22 m | 2 y 11 m | 1 y |
| Molecular data | ||||||||
| DDB1 variant (g) Hg19 | chr11: 61094361_61094369del | chr11: 61094353G>A | chr11: 61094352C>T | chr11: 61094278C>T | chr11: 61083980A>C | |||
| DDB1 variant (c) (NM_001923.4) variant (p) (NP_001914.3) | c.551_559del (p.Asp184_Gln186del) | c.562C>T (p.Arg188Trp) | c.563G>A (p.Arg188Gln) | c.637G>A (p.Glu213Lys) | c.1285T>G (p.Phe429Val) | |||
| Phenotypic features | ||||||||
| Hypotonia | moderate | mild | nil | moderate | moderate | moderate | moderate | moderate |
| Intellectual disability | moderate | moderate DD | mild (IQ = 69) | mild | mild-moderate | mild | moderate DD | moderate DD |
| Craniofacial | thick, light-blonde eyebrows; deep-set, upslanting palpebral fissures; epicanthic folds; short nose in early childhood; very full cheeks; thin upper vermilion; wide mouth; large ears with large and long ear lobes | horizontal, dark eyebrows synophrys; long palpebral fissures with lateral extension; epicanthus inversus; long dark eyelashes; short nose; underdeveloped alae nasi; mid-face hypoplasia; full cheeks; low-set, large ears with long fleshy lobes | synophrys; short palpebral fissures; full cheeks; large earlobes | horizontal, dark eyebrows with medial broadening; lateral extension; lateral extension to palpebral fissures; short nose; mid-face hypoplasia; thin upper vermilion; large ears with fleshy lobes | dark, horizontal, heavy eyebrows; round face; mild midface hypoplasia; full cheeks; protruding upper lip; thin vermillion retrognathia asymmetric; occlusion of teeth; large fleshy ears and earlobes | medial broadening of eyebrows; telecanthus; lateral extension to palpebral fissures; epicanthus; long eyelashes; short nose, retrognathia; thin, tented upper vermilion; low set, fleshy ears | deep-set eyes; epicanthus; hypotelorismconvergent strabismus; nystagmus; short and upturned nose; underdeveloped alae nasi; full cheeks; large, simple ears | medial broadening of eyebrows; telecanthus proptosis epicanthus inversus; flat nasal bridge; mid-face hypoplasia |
| Malformations | anterior anus and recto-vaginal fistula | accessory band across left ventricle of heart, horseshoe kidney, anterior ectopic anus, dysgenesis of corpus callosum | nil | nil | horseshoe kidney with left vesico-ureteric reflux, pelvicalyceal dilatation and megaureter | nil | mild left hydronephrosis | metopic cranio-synostosis |
| Hands and feet | small hands and feet, short fourth metacarpals, brachydactyly | 2–3 toe syndactyly, brachydactyly | short toes | short toes | short toes | NR | 2–3 toe partial syndactyly | NR |
| Other | joint laxity, ADHD, anxiety, hypothyroidism, recurrent otitis media, obesity | joint laxity, truncal obesity | frequent otitis media | mild joint laxity, bilateral hip dysplasia, obstructive sleep apnea | mild joint laxity | NR | gastro-esophageal reflux | NR |
NR, not reported; DD, developmental delay.