A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review

Table 1 Clinical features for our proband and 5 reported patients with GOF mutations in ACOX1

	Our proband	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
ACOX1 variant	de novo heterozygous missense variant (p.N237S)	de novo heterozygous missense variant (p.N237S)	de novo heterozygous missense variant (p.N237S)	de novo heterozygous missense variant (p.N237S)	de novo heterozygous missense variant (p.N237S)	de novo heterozygous missense variant (p.N237S)
Disease onset	3y	12y	9y	3y	14y	9y
Disease course	Waxing and waning	Waxing and waning then progressive	Waxing and waning then progressive	Waxing and waning then progressive	Waxing and waning	Waxing and waning
Sensorimotor polyneuropathy	Yes	Yes	Yes	Yes	Yes	Yes
Hearing loss	Yes	Yes	Yes	Yes	Yes	Yes
Ocular Symptoms	Yes	Yes	No	Yes	Yes	Yes
Ataxia	Yes	Yes	Yes	Yes	Yes	Yes
Rash	Yes	No	Yes	Yes	Yes	Yes
Abdominal pain and diarrhea	Yes	No	No	No	No	No
Nausea	Yes	No	No	No	No	No
Dysuria	Yes	No	No	No	Yes	No
Cognition	Normal	Normal→decreased	Normal→decreased	Decreased	Normal	Normal→decreased
VLCFA ^a	Normal	Normal	Normal	Normal	Normal	Not reported
White matter demyelination	Normal	Normal→abnormal	Normal→abnormal	Normal→abnormal	Abnormal	Abnormal

ISSN: 1755-8794