Table 1 Comparison of clinical and genetic findings in patients with variants of HIST1H4C and HIST1H4J
HIST1H4J | HIST1H4C (pt. 1) | HIST1H4C (pt. 2) | HIST1H4C (pt. 3) | |
|---|---|---|---|---|
cDNA change | c.274 A > G | c.274 A > C | c.275 A > G | c.275 A > G |
Effect | p.K91E | p.K91Q | p.K91R | p.K91R |
Age at last visit | 13 years | 7 year | 13 years | 11 days |
Gender | Male | Female | Female | Female |
Ethnicity | Hispanic | Caucasian | Caucasian | Caucasian |
Microcephaly | ✓ | ✓ | ✓ | ✓ |
Hypotonia | ✓ | ✓ | ✓ | No |
Developmental delay | ✓ | ✓ | ✓ | ✓ |
Growth retardation | ✓ | ✓ | ✓ | NA |
Intellectual disability | ✓ | ✓ | ✓ | NA |
Brain MRI findings | Mild prominence of the supratentorial sulci and cisterns | Reduction in white matter bulk | Normal | NA |
Ophthalmologic | Oculomotor apraxia, moderate angle left esotropia | Myopia, squint | Amblyopia of the left eye, small papillae, refraction anomaly, convergent strabismus of the left eye | |
Craniofacial features | Upslanting palpebral fissures, hypertelorism, periorbital fullness, flat nasal bridge, wide mouth, short philtrum | Upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, hypertelorism, ptosis, exorbitism | Upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, hypertelorism, asymmetric eyes, periorbital fullness | Upslanting palpebral fissures, bifid flat nasal tip, retrognathia |
Foot ray anomaly | Unknown | ✓ | ✓ | ✓ |
Other features | Pervasive developmental disorder, hypospadias | Secundum atrial septal defect, small kidneys with lack of cortico-medullary differentiation and simple cysts, high pain threshold | Psychotic, lordosis, cutis marmorata, seizures |
