ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature

Table 1 Gene sequencing data of the ACTA2 in the patient

Item	Results
Nucleotide changes	c.536G>A
NM No.	NM_001613.2
Homozygous/heterozygous mutation	Heterozygous mutation
Amino acid changes	p.R179H
Minor allele frequency	N/A
Pathogenicity	Pathogenic mutation
Disease/phenotype	Multi-systemic smooth muscle dysfunction syndrome
Genetic type	Autosomal dominant
Mutation source	Newly identified

Table 2 Clinical characteristics of 37 patients with multiple smooth muscle disorder syndrome

	Mutation type	Arg179His1	Arg179Cys	Arg179Leu	Asn117Lys
Total number of patients (unit: example)		28	5	2	2
Clinical features
Visual system symptoms
	Congenital mydriasis	28	5	2	2
	Retinal vessels twists and turns	13	1	1	0
Cardiovascular system
	Patent ductus arteriosus	26	5	2	2
	Pulmonary hypertension	12	2	0	0
	Thoracic aortic aneurysm	9	0	0	0
	Pulmonary artery dilatation	10	1	0	0
Nervous system
	Underdevelopment	11	1	0	0
	Cerebral infarction or hemiplegia	5	1	0	1
	White matter lesion	21	3	0	1
	Manifestations of moyamoya-like disease	19	4	1	0
	Epileptic seizure	4	1	0	0
Respiratory system
	Dyspnea	14	3	1	0
	Asthma	3	0	0	0
Digestive system
	Intestinal malrotation	5	2	0	0
	Poor intestinal peristalsis	5	1	0	0

¹Including our patient. Data collected from references: Arg179His[1,2,6-10,15,17-21]; Arg179Cys[11,13,16,22]; Arg179Leu[14,17]; Asn117Lys[12].