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

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

 Gene nameIsoform and nucleotide change (cDNA)Amino acid changedbSNP referenceSIFT/PolyPhenDisease/Phenotype associated
Neurologic related diseasesTRIM65NM_173547
c.1A>G
p.M1HNovel variantDamaging/Probably damagingProbably associated to white matter hyperintensity
PMID:25586835
POLR3ANM_007055
c.2934G>C
p.E978DNovel variantDamaging/BenignLeukodystrophy, Hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (MIM:607694)
TSC2NM_000548
c.2445G>T
p.M815INovel variantTolerated/Possibly damagingTuberous sclerosis (MIM:613254)
GLI2NM_005270
c.67G>T
p.A23SNovel variantTolerated/BenignHoloprosencephaly 9 (MIM:610829); Culler-Jones syndrome (MIM:615849)
LAMA1NM_005559
c.7724C>T
T2575Mrs76482057Damaging/BenignPoretti-Boltshauser syndrome (MIM:615960)
LAMA1NM_005559
c.2808+5G>A
Splicingrs201030108NA/NAPoretti-Boltshauser syndrome (MIM:615960)
NDUFA10NM_004544
c.1036G>A
p.E346KNovel variantDamaging/BenignLeigh syndrome (MIM:256000)
Immunologic related diseasesNLRP12NM_144687
c.910C>T
p.H304Yrs141245482Damaging/Probably damagingFamilial cold autoinflammatory syndrome (MIM:611762)
CSF3RNM_000760
c.2360A>G
p.Y787Crs150281231Tolerated/BenignNeutrophilia, Hereditary (MIM:162830)
SIAENM_170601
c.688C>T
p.R230Wrs200862001Damaging/Probably damagingAutoimmune disease (MIM:613551)
MCM4NM_005914
c.2063A>G
p.K688RNovel variantTolerated/BenignNatural killer cell and glucocorticoid deficiency with DNA repair defect (MIM:609981)
  1. 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