Table 1.

Literature review of clinical characteristics in infantile nystagmus patients with the TUBB3 variants.

Clinical Characteristics		Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
TUBB3 variant		p.M323V	p.M323V	p.A302V (homo)	p.G71R	p.G71R	p.G98S	p.M323V
Inheritance pattern		AD	AD	Isolated (homo)	Isolated	Isolated	Isolated	Isolated
Age		36 years	2 years	1 year	5 years	9 years	2 years	6 months
Gender		Male	Male	Female	Female	Male	Female	Male
Ethnicity		NA	NA	NA	European	European	European	Korean
OFC		3rd p	25th p	3rd p	NA	NA	NA	3-50th p
Motor delay		Hypotonia	Hypotonia	Hypotonia	Hypotonia	Hypotonia	Hypotonia	Absent
Cognitive function		Severe ID	LD	NA	ID	ID	ID	ID, LD
Epilepsy		Absent	Absent	Absent	NA	NA	NA	Absent
CFEOM		No	No	No	Yes	Yes	Yes	No
Nystagmus		Horizontal nystagmus	Horizontal nystagmus	Multidirectional nystagmus	Rotary nystagmus	Horizontal nystagmus	Horizontal nystagmus	Horizontal nystagmus
Cortical dysgenesis		Gyral disorganization	Gyral disorganization	Gyral disorganization	Gyral disorganization	Gyral disorganization	Gyral disorganization	Gyral disorganization
Cerebellum	vermis	Dysplastic	Dysplastic	Dysplastic	Dysplastic	Dysplastic	Dysplastic	Dysplastic
	Hemisphere	Dysplastic	Normal	Normal	Normal	Normal	Normal	Normal
Brainstem		Hypoplastic	Hypoplastic	Hypoplastic	Hypoplastic	Hypoplastic	Hypoplastic	Normal
Corpus callosum		Thin	Thin	Thin	Thin	Thin	Thin	Asymmetric
Basal ganglia		Hypertrophic/mild fusion	Hypertrophic/mild fusion	Fusion caudate/ putamen	Hypertrophic/ fusion	Hypertrophic/ fusion	Hypertrophic/ fusion	Asymmetric
Literatures		Poirier et al. Hum Mol Genet (2010)	Poirier et al. Hum Mol Genet (2010)	Poirier et al. Hum Mol Genet (2010)	Whitman et al. Am J Med Genet A. (2016)	Whitman et al. Am J Med Genet A. (2016)	Whitman et al. Am J Med Genet A. (2016)	This study

Abbreviations: AD, autosomal dominant; CFEOM, congenital fibrosis of the extraocular muscle; homo, homozygous; ID, intellectual disability; LD, language delay; NA, not available; OFC, occipitofrontal circumference; p, percentile.