Table 3.

Hypomyelinating Disorders of Interest in the Differential Diagnosis of Hypomyelination and Congenital Cataract

Gene(s)DiffDx DisorderMOIFeatures of DiffDx Disorder
Overlapping w/HCCDistinguishing from HCC
PLP1 Pelizaeus-Merzbacher disease (See PLP1 Disorders.)XLSpasticity/ataxia; nystagmus; hypomyelinationNo congenital cataracts; pure hypomyelination on MRI; peripheral neuropathy rare; X-linked inheritance
GJC2 Hypomyelinating leukodystrophy 2 (OMIM 608804)ARSpasticity/ataxia; nystagmus; hypomyelination, peripheral neuropathy, epilepsyNo congenital cataracts; hypomyelinating MRI pattern different
TUBB4A TUBB4A-related leukodystrophy ADSpasticity/ataxia; nystagmus; hypomyelinationHypomyelination, cerebellar atrophy, & (in most cases) atrophy of the basal ganglia on MRI
POLR1C
POLR3A
POLR3B
POLR3K 		POLR3-related leukodystrophy ARAtaxia, hypodontia, hypogonadotropic hypogonadism, high myopiaSpecific pattern of hypomyelination & cerebellar atrophy on MRI

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; HCC = hypomyelination and congenital cataract; MOI = mode of inheritance; XL = X-linked

From: Hypomyelination and Congenital Cataract

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