Table 1.
Phenotype and genotype of the individuals
| Individual 1 (German) | Individual 2 (Polish) | Individual 3 (Canadian) | |
|---|---|---|---|
| Genetic and proband data | |||
| Variant in CLDN11, chromosomal position (NC_000012.11, hg19) | chr3:g.170150542T>C | chr3:g.170150542T>G | chr3:g.170150542T>C |
| Variant in CLDN11, cDNA and protein position (NM_005602.5, NP_005593.2) |
c.622T>C p.(*208Glnext*39) |
c.622T>G p.(*208Gluext*39) |
c.622T>C p.(*208Glnext*39) |
| Inheritance | De novo | De novo | De novo |
| Gender | Female | Male | Male |
| Ethnicity | Non-Finnish European (German; family from Germany) | Non-Finnish European (Polish; family from Poland) | Non-Finnish European (Canadian; maternal family from former Yugoslavia and Scotland, paternal family from Russia, Norway and Germany) |
| Age at last examination | 13 years | 8 years | 6.5 years |
| Pyramid signs | |||
| Babinski (yes/no) | + | + | + |
| Lower extremity tendon reflexes | ++ | +++ | ++ |
| Axial/trunk muscle tone | Hypotonic | Rigid | Normal |
| Lower extremity muscle tone | High | High | High |
| Upper extremity muscle tone | High | High / rigid | Normal-high |
| Motor developmental milestones | |||
| Sitting without support | Age 4.5 years | Age 3.5 years | Age 4 years |
| Walking without assistance | Few metres (at home) | Few metres age 5 years, lost ability to walk age 5.5 years | Never learned, stand shortly unsupported age 6 years |
| GMFCS level | III | III | III |
| Skeletal findings | |||
| Scoliosis | − | − | − |
| Contractures | + | + | + |
| Other | Flat feet | Abnormal shoulder belt, short neck, concave chest | − |
| Mental development and speech | |||
| Intelligence | Low-normal range | Low-normal range | Low-normal range |
| Autism | No | No | No |
| First words | 2.2 years | 4 years | 2 years |
| Speech receptive | Good | Good | Good |
| Speech expressive | Simple sentences | Sentences up to 6 words | Sentences up to 6 words |
| Dysarticulation | Severe | Severe | Severe |
| Drooling | + | + | + |
| Visual system | |||
| Nystagmus | + | + | + |
| Head nodding | − | − | + |
| Refraction error | Hypermetropia (+2.0 dpt) and astigmatism | Hypermetropia (+4.5/+4.25 dpt) and astigmatism | Hypermetropia (+3.25 dpt/+2.75 dpt) and astigmatism |
| Fundus | Normal | Normal | Normal (age 14 months) pale right optic disc (age 4 years) |
| Cataract | − | − | − |
| Strabism | + | + | + |
| Epilepsy | |||
| EEG | Normal | Unspecific changes | Normal |
| Seizures | Single seizure at age 3 years, currently seizure-free without medication | No seizures | No seizures |
+/++/+++/− = present (with graduation)/absent; GMFCS = gross motor function classification system.