Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report

Table 1 Whole exome sequencing (WES) variants potentially associated with the neurologic and immunologic features of the patient

	Gene name	Isoform and nucleotide change (cDNA)	Amino acid change	dbSNP reference	SIFT/PolyPhen	Disease/Phenotype associated
Neurologic related diseases	TRIM65	NM_173547 c.1A>G	p.M1H	Novel variant	Damaging/Probably damaging	Probably associated to white matter hyperintensity PMID:25586835
	POLR3A	NM_007055 c.2934G>C	p.E978D	Novel variant	Damaging/Benign	Leukodystrophy, Hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (MIM:607694)
	TSC2	NM_000548 c.2445G>T	p.M815I	Novel variant	Tolerated/Possibly damaging	Tuberous sclerosis (MIM:613254)
	GLI2	NM_005270 c.67G>T	p.A23S	Novel variant	Tolerated/Benign	Holoprosencephaly 9 (MIM:610829); Culler-Jones syndrome (MIM:615849)
	LAMA1	NM_005559 c.7724C>T	T2575M	rs76482057	Damaging/Benign	Poretti-Boltshauser syndrome (MIM:615960)
	LAMA1	NM_005559 c.2808+5G>A	Splicing	rs201030108	NA/NA	Poretti-Boltshauser syndrome (MIM:615960)
	NDUFA10	NM_004544 c.1036G>A	p.E346K	Novel variant	Damaging/Benign	Leigh syndrome (MIM:256000)
Immunologic related diseases	NLRP12	NM_144687 c.910C>T	p.H304Y	rs141245482	Damaging/Probably damaging	Familial cold autoinflammatory syndrome (MIM:611762)
	CSF3R	NM_000760 c.2360A>G	p.Y787C	rs150281231	Tolerated/Benign	Neutrophilia, Hereditary (MIM:162830)
	SIAE	NM_170601 c.688C>T	p.R230W	rs200862001	Damaging/Probably damaging	Autoimmune disease (MIM:613551)
	MCM4	NM_005914 c.2063A>G	p.K688R	Novel variant	Tolerated/Benign	Natural killer cell and glucocorticoid deficiency with DNA repair defect (MIM:609981)

cDNA complementary deoxyribonucleic acid, dbSNP Single Nucleotide Polymorphism Database, MIM Mendelian Inheritance in Man, NA not available, PolyPhen Polymorphism Phenotyping, SIFT Sorting Intolerant From Tolerant

ISSN: 1752-1947