Table 1.
Clinical Features Reported in MLS-Affected Individuals Carrying Deletions or Point Mutations in HCCS or Point Mutations in COX7B
|
HCCS Deletions or Point Mutationsa |
COX7B Point Mutations |
||||
|---|---|---|---|---|---|
| Occurrence | Case 1 | Case 2 |
Family 1 |
||
| Clinical Features | II.4 | I.2 | |||
| Microphthalmia | 43/55 (78%) | − | − | − | − |
| Sclerocornea | 22/55 (40%) | − | − | − | − |
| Other eye abnormalities | 28/55 (51%) | − | − | +b | − |
| Linear skin lesions | 42/55 (76%) | + | + | + | + |
| Nail dystrophy | 3/55 (5%) | + | − | − | − |
| Microcephaly, agenesis of the corpus callosum, and other CNS abnormalities | 24/52 (43%) | + | + | + | − |
| Intellectual disability | 9/42 (21%) | − | + | + | − |
| Short stature | 16/36 (44%) | + | + | − | − |
| Cardiac abnormalities | 21/52 (40%) | − | + | + | − |
| Diaphragmatic hernia | 3/55 (5%) | − | + | − | − |
| Genitourinary abnormalities | 14/55 (25%) | − | + | − | − |
Please note that for each feature listed in the table, the total number of individuals taken into account includes only cases in whom each clinical feature was analyzed and documented.
a
See GeneReviews in Web Resources, as well as Sharma et al.,8 Kono et al.,26 and Zumwalt et al.27
b
Pale optic discs and altered visual-evoked potentials.