Table 1.
Individuals carrying missense variants in DROSHA display a strikingly similar neurodevelopmental disorder
| Individual 1 | Individual 2 | |
|---|---|---|
| Age, sex | 3-year 9-month-old male | 23-year-old female |
| Variant classification | De novo | De novo |
| Variant information (NM_013235.5) | c.3656A>G (p.D1219G) | c.4024C>T (p.R1342W) |
| Postnatal microcephaly | Z = −6 SD | Z = −2.6 SD |
| Dysmorphisms | Broad face, brachycephaly, large tongue, small feet | Broad face, brachycephaly, small hands and feet |
| Profound IDD/Hypotonia | Present | Present |
| Seizures | Focal, age 3d (well controlled) | Focal, then generalized, age 7m (partially controlled) |
| Abnormal movements | Choreoathetosis of arms | Midline hand stereotypes, rocking of the trunk |
| Gastrointestinal | Gastrostomy tube fed since 4 weeks, constipation | Nasogastric tube feeds, constipation |
| Urogenital | Microphallus, undescended testes | Urinary retention |
| Respiratory | Tracheostomy dependent since 2 years 10 months | Episodes of hyperventilation/apnea |
| Skeletal | Congenital hip dysplasia and knee subluxation, mild osteopenia, scoliosis | Hip subluxation, delayed bone maturation, kyphosis |
| Cardiac | PDA, aortic root and ascending aorta dilation at 3 years | Sinus tachycardia |
| Brain MRI | White matter atrophy, thin corpus callosum | White matter atrophy, thin corpus callosum |