Table 2 Clinical and molecular data of our 13 patients with CASK mutation
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex/age at last examination (years) | F/7 | F/3 | F/14 | F/13 | F/3 | F/1 | F/1 | F/10 | F/14 | F/8 | F/3.5 | M/15 | M/1.3 |
Birth (weeks) | 39 | 40 | 40 | 40 | 40 | 39 | 41 | 40 | 41.5 | 40 | 39 | 41 | 40 |
Pregnancy | pre-eclampsia | N | N | IUGR | INT | N | N | N | microcephaly IUGR | N | N | N | N |
OFC/weight/length at birth (SD) | -2/-1/-1 | -3/-1/-1 | -1/-1/-1 | -1/-1/-1 | -2/-1/-1.5 | -1.5/-1/-1 | -2/0/-0.5 | -1/0/-0.5 | -3/-2/-3 | -1/-1/-1.5 | 0/0/0 | -3/-1.5/-2 | -2/0/-0.5 |
feeding difficulties | ++ | + | + | + | NA | + | - | - | + | + | + | + | ++ |
Severe developmental delay/intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + | + |
Language | bable | bable | bable | bable | NA | TY | TY | 2 words | 5-6 words | 10 words | - | 12 words | - |
Ability to hold his head | + | + | + | + | + | + | + | + | + | + | NA | + | - |
Ability to sit (age in months) | 13 | - | 36 | 20 | 18 | - | - | 24 | 18 | 18 | 27 | 18 | - |
Ability to stand (age in years) | 3 | - | 5 (briefly) | 4 (briefly) | NA | TY | TY | - | - | 2 | NA | 1.5 | - |
Method of movement | walks on 4 legs wheelchair | rolling | wheelchair | wheelchair | walks with support wheelchair | TY | TY | wheelchair | wheelchair | walks, runs | wheelchair | walks | bedridden |
Hand control | + | - | + | + | + | + | NA | + | + | + | NA | + | - |
Spasticity | ++ | + | + | ++ | + | NA | + | ++ | ++ | - | NA | - | +++ |
Dystonia | - | + | + | + | + | NA | + | + | + | - | NA | + | +++ |
Choreoathethosis | - | - | - | - | - | - | - | - | - | - | NA | - | - |
Epilepsy | - | - | - | + | - | - | + | + | - | - | - | - | +++ |
Stereotypies | - | NA | + | + | NA | NA | - | - | + | + | + | + | - |
OFC/height (SD) | -6/-3 | -6/-3.5 | -6/-2 | -7,5/-4 | -5/NA | -3/1 | -4/-1 | -6.5/-4.5 | -6/-4 | -4/-3 | -5/0 | -3.5/-3.5 | -6/-2 |
ophthalmologic anomalies | strabismus | ret | OA | meg, OA SP ret low vision | ret | meg bil glau | - | myopia | SP ret low vision | - | strabismus | - | OA |
Abnormal ERG | - | + | NA | + | + | NA | NA | - | ++ | + | NA | NA | - |
Hearing | N | unil SN deaf | NA | N | unil SN deaf | NA | N | bil SN deaf | N | N | N | N | - |
Sleep disturbance | ++ | ++ | ++ | + | NA | NA | ++ | - | ++ | ++ | ++ | - | - |
Scoliosis | + | + | + | + | NA | NA | - | - | + | - | - | - | - |
Extremities | N | N | N | long fingers and toes | N | long fingers | N | N | clinodactyly, overlapping toes | hypoplastic nails | slender hands and feet | 2-3 syndactyly | long slender fingers with retractions |
Dysmorphism | NA | + | + | + | NA | + | + | + | + | + | NA | + | + |
Mutation | Xp11.4 deletion 0.3 Mb | Xp11.3-p11.4 deletion 3 Mb | Xp11.4 deletion 0.5 Mb | c.1968 G > A (p.Trp656*) | c.2040-2A > G | c.2080 C > T (p.Gln694*) | c.2074 C > T (p.Gln692*) | c.2302 + 5 G > A | c.2039 + 1 G > T | c.1970 G > A (p.Trp657*) | c.1501dupA (p.Met501fs) | c.[ =/316 C > T] (p.Arg106*) mosaic | c.278 + 1 G > A |
Exon/intron | exons 1-8 | exons 1-27 | exon 1 | exon 21 | intron 21 | exon 22 | exon 22 | intron 24 | intron 21 | exon 21 | exon 15 | exon 4 | intron 3 |
X-inactivation | NA | random | random | random | random | random | random | random | random | random | NA | na | na |
Parents | de novo | NA | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo |