Table 2.

Differential Diagnosis of Tubulinopathies

Brain MalformationGene(s)DisorderMOI
Lissencephaly-pachygyria spectrum of cortical malformation (smooth cortex w/simplified gyration appearance)PAFAH1B1
(LIS1)		PAFAH1B1-related lissencephaly/subcortical band heterotopia)AD
ACTB
ACTG1 		Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome AD
Classic & atypical lissencephaly syndromes ARX X-linked lissencephaly 2 (OMIM 300215)XL
DCX DCX-related disorders XL
DYNC1H1 See footnote 1. (OMIM 600112)AD
PAFAH1B1
(LIS1)		 PAFAH1B1-related lissencephaly/subcortical band heterotopia AD
PAFAH1B1 & YWHAE 2Miller-Dieker lissencephaly syndrome (OMIM 247200)AD
RELN Lissencephaly 2 (OMIM 257320)AR
VLDLR VLDLR cerebellar hypoplasia AR
Cobblestone cortical malformation (lissencephaly) syndromes (frequently assoc w/hydrocephalus, dysmyelination, dysplastic cerebellum & brain stem hypoplasia, multiple eye anomalies, & congenital muscular dystrophy)ADGRG1 (GPR56) Polymicrogyria AR
B3GALNT2
B4GAT1
CRPPA (ISPD)
DAG1
FKRP
FKTN
GMPPB
LARGE1
POMGNT1
POMGNT2
POMK
POMT1
POMT2
RXYLT1 (TMEM5)		Walker-Warburg syndrome 3AR
DAG1
GMPPB
LARGE1
POMGNT1
POMT1
POMT2 		Muscle-eye-brain disease 3AR
FKTN Fukuyama congenital muscular dystrophy 3AR
Generalized dysgyria DYNC1H1 See footnote 1. (OMIM 600112)AD
NDE1 Lissencephaly 4 (OMIM 614019)AR
WDR62 Primary AR microcephaly 2 AR
Polymicrogyria (See Polymicrogyria Overview.)EOMES (TBR2)See OMIM 604615AR
KIF5C Complex cortical dysplasia w/other brain malformations 2 (OMIM 615282)AD
Microlissencephaly KATNB1 Lissencephaly 6 w/microcephaly (OMIM 616212)AR
NDE1 Lissencephaly 4 (OMIM 614019)AR
WDR62 Primary AR microcephaly 2 AR
Microcephaly w/cortical malformations KIF2A Complex cortical dysplasia w/other brain malformations 3 (OMIM 615411)AD
1.

Mutation of DYNC1H1 is associated with isolated polymicrogyria, nodular heterotopia, hypoplasia of the corpus callosum, abnormally shaped basal ganglia, and in some cases, evidence of peripheral neuropathy [Poirier et al 2013a]. See Charcot-Marie-Tooth Hereditary Neuropathy Overview.

2.

As currently defined, Miller-Dieker syndrome is associated with deletions that include both PAFAH1B1 (LIS1) and YWHAE (a region of ~1.3 Mb harboring many genes) in 17p13.3 [Pilz et al 1998, Cardoso et al 2003].

3.

From: Tubulinopathies Overview

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