Table 1.
Phenotype of Individuals with DDHD2 Mutations
|
Family 1 |
Family 2 |
Family 3a |
Family 4 |
Total | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II-1 | II-2 | II-1 | II-2 | IV-3 | IV-4 | IV-10 | IV-11 | IV-12 | IV-13 | V-30 | II-1 | ||
| Descent | Dutch Filipino | Canadian | Oman | Iran | |||||||||
| Consanguinity | − | − | + | + | − | ||||||||
| Mutation (cDNA) | c.1804_1805insT; c.2057delA | c.1386dupC; c.1978G>C | c.1546C>T | c.859C>T | − | ||||||||
| Alteration (protein) | p.Thr602Ilefs∗18; p.Glu686Glyfs∗35 | p.Ile463Hisfs∗6; p.Asp660His | p.Arg516∗ | p.Arg287∗ | − | ||||||||
| Gender | F | M | F | M | − | M | F | F | F | M | F | M | − |
| Age at investigation (years) | 5 | 3 | 10 | 7 | − | 10 | 21 | 15 | 11 | 10 | 8 | 30 | − |
| Clinical Features | |||||||||||||
| ID and/or DD | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Hypomimia | − | − | + | + | − | − | − | − | − | − | − | + | 3/12 |
| Strabismus | − | − | + | + | + | + | + | + | + | + | N/A | + | 9/12 |
| Optic-nerve hypoplasia | + | + | − | − | N/A | N/A | N/A | N/A | N/A | N/A | N/A | + | 3/5 |
| Dysartria | − | − | + | + | + | + | + | + | + | + | N/A | + | 9/12 |
| Dysphagia | − | − | − | + | − | − | + | + | + | + | + | − | 6/12 |
| Constipation | + | + | + | + | + | − | + | + | − | − | − | − | 7/12 |
| Urinary incontinence | + | + | + | + | − | − | − | − | − | − | − | − | 4/12 |
| Fecal incontinence | + | + | + | − | − | − | − | − | − | − | − | − | 3/12 |
| Upper limbs | |||||||||||||
| Spasticity | − | − | moderate | moderate | mild | mild | − | mild | − | − | − | − | 5/12 |
| Distal weakness | − | − | + | + | − | − | − | − | − | − | − | + | 3/12 |
| Rigidity | − | − | − | + | − | − | − | − | − | − | − | + | 2/12 |
| Lower limbs | |||||||||||||
| Spastic paraplegia | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Hyperreflexia | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Distal weakness | − | − | + | + | + | + | + | + | + | + | N/A | + | 9/12 |
| Pes cavus | − | − | − | − | − | − | + | + | − | − | − | − | 2/12 |
| Foot contractures | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Radiological Findings | |||||||||||||
| Thin corpus callosum | + | + | + | + | + | + | N/A | + | + | + | + | + | 11/11 |
| PWMH | + | + | + | + | + | + | N/A | + | + | + | + | + | 11/11 |
| Lipid peakb | + | + | + | + | N/A | N/A | N/A | N/A | N/A | N/A | N/A | + | 5/5 |
| Syrinx | − | + | N/A | + | N/A | N/A | N/A | N/A | N/A | N/A | N/A | − | 2/4 |
| Mitochondrial Function | normal | N/A | normal | normal | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 0/3 |
RefSeq accession number NM_015214.2 was used in naming mutations. The following abbreviations are used: +, presence of clinical features; –, absence of clinical features; F, female; M, male; ID, intellectual disability; DD, developmental delay; PWMH, periventricular white-matter hyperintensities; and N/A, not available.
a
Family 3 has previously been described by Al-Yahyaee et al.8
b
Lipid peak at 1.3 ppm (as measured by proton MRS) and the highest signal intensity in the basal-ganglia and thalamus area.