Table 2.

Genes of Interest in the Differential Diagnosis of Aicardi Syndrome

Gene(s)DiffDx DisorderMOIFeatures of DiffDx Disorder
NeurologicOphthalmologicOtherDistinguishing from AIC
COX7B
HCCS
NDUFB11 		Microphthalmia w/linear skin defects syndrome XLCorpus callosum agenesis, seizures, IDMicrophthalmia, cataract, colobomaLinear skin defectsCharacteristic linear skin defects
FLNA X-linked periventricular heterotopia XLNeuronal migration defects, seizures, IDNone–No ophthalmic abnormalities
KIF11 MCLMR (OMIM 152950)ADSevere microcephaly, IDPeripheral retinal defectsLymphedemaMicrocephaly is severe, neuronal migration defects uncommon, chorioretinal changes peripheral, & optic nerves normal. 1
PLK4 MCCRP2 (OMIM 616171)ARSevere microcephaly, IDCataract, microcorneaShort statureMicrocephaly is severe.
PORCN Focal dermal hypoplasia (Goltz syndrome)XLNormal & IDMicrophthalmia, colobomaCutis aplasia, telangectasias & other dermatologic abnormalitiesCharacteristic skin defects
TSC1
TSC2 		Tuberous sclerosis complex ADInfantile spasms, cortical tubersAchromic retinal patchesRenal cystsAbsence of characteristic eye findings of Aicardi syndrome
TUBGCP4 MCCRP3 (OMIM 616335)ARSevere microcephaly, IDPeripheral retinal defects, microphthalmia–Microcephaly is severe, chorioretinal changes peripheral, & optic nerves normal. 1
TUBGCP6 MCCRP1 (OMIM 251270)ARSevere microcephaly, IDPeripheral retinal defects, microphthalmiaShort statureMicrocephaly is severe, chorioretinal changes peripheral, & optic nerves normal. 1

AD = autosomal dominant; AIC = Aicardi syndrome; AR = autosomal recessive; DiffDx = differential diagnosis; ID = intellectual disability; MCCRP = microcephaly and chorioretinopathy, autosomal recessive; MCLMR = microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

In contrast to AIC, in which chorioretinal lacunae are central & optic nerves almost always involved

From: Aicardi Syndrome

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