Table 2 Clinical features of the identified variants in the ATCAY gene

Sex / age (year)

Female (1) / Less than 1 year

NA

NA

Male (6) / Less than 1 year

Onset

At birth

NA

NA

At birth

Origin

Iran

Grand Cayman Island

Grand Cayman Island

Pakistan

Psychomotor retardation

Y

Y

Y

Y

Nystagmus

Y

Y

Y

Y

Strabismus

Y

N

N

Y

Dysarthria

Y

Y

Y

Y

Hypotonia

Y

Y

Y

Y

Intention tremor

Y

Y

Y

Y

Truncal ataxia

Y

Y

Y

N

Ataxic gait

Y

Y

Y

Y

Pes planus

Y

Y

Y

Y

Extra neurological clinical features (subconjunctival lipodermoid, diffuse melanosis on the back, atrophy of buttock muscles, and failure to thrive)

Y

N

N

N

Cerebellar dysfunction / hypoplasia

Y

Y

Y

Y

Hyperintensity of globus pallidus

Y

N

N

N

Mutated gene

ATCAY

ATCAY

ATCAY

ATCAY

cDNA change

c.883_884del

c.903C > G

c.965 + 3G > T

c.602_608del

Amino acid change

p.(Lys295AspfsTer52)

p.(Ser301Arg)

-

p.(Asp201AlafsTer20)

Zygosity

Hom

Hom

Hom

Hom