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Page 262 Morales et al. J Transl Genet Genom 2022;6:257-65 https://dx.doi.org/10.20517/jtgg.2022.01

Table 1. Clinical features of previously and currently reported patients with SC4MOL deficiency

[11]
He et al. [6,7] 2011 & 2014 Frisso et al. [10] Kalay et al. 2020 Morales et al. 2022
2017
Case 1 Case 2 Case 3 Case 4 Case 5 Case 6 Case 7 Case 8
Age at time of report 13 5 N/A N/A 19 9 7 8
(years)
Age at time of 13 2 N/A N/A 19 9 7 2
diagnosis (years)
Gender Female Female N/A N/A Male Male Female Male
Variants c.519T>A, c.G343G>A, N/A N/A c.731A>G, c.81A>C, p.(N27T)/ c.81A>C, p.(N27T)/ c.731A>G, p.(Y244C)/
p.(H173Q)/ p.(G115R)/ p.(Y244C)/ c.81A>C, p.(N27T) c.81A>C, p.(N27T) c.536C>T, p.(P179L)
c.731A>G, p.(Y244C) c.G343G>A, c.605G>A, p.G202E
p.(G115R)
Inheritance AR AR AR AR AR AR AR AR
Ethnicity Caucasian Hispanic N/A N/A Caucasian N/A N/A Caucasian
Consanguinity N/A N/A N/A N/A N/A + + -
Failure to + + N/A N/A + + - + (transitory)
thrive/growth delay
Neurodevelopmental Mild DD, ID DD N/A N/A DD, moderate ID, Severe ID Severe ID DD/mild-moderate ID, autism
findings OCD spectrum disorder
Microcephaly + + N/A N/A - + + -
Structural brain - - N/A N/A Blake’s cyst Enlarged ventricles Enlarged ventricles N/A
abnormalities Dysmorphic Corpus callosum
ventricles dysgenesis
Cerebellar Hypoplastic inferior
hypoplasia vermis
Enlarged cisterna
magna
Ocular findings Congenital cataracts Congenital N/A N/A Congenital cataract Optic hypoplasia Optic hypoplasia Congenital cataracts
cataracts Strabismus Strabismus Nystagmus
Myopia Myopia
Nystagmus Nystagmus
Skin findings (onset) Generalized Dry skin (N/A) Psoriasiform Psoriasiform Mild scalp Generalized Perioral and anogenital Transitory perianal
psoriasiform dermatitis (early dermatitis (early sebopsoriasis psoriasiform dermatitis psoriasiform psoriasiform dermatitis (7
dermatitis (2 years) infancy) infancy) (2 months) dermatitis (3 years) years)
4-monomethylsterol ↑↑ ↑↑* ↑↑ ↑↑ ↑↑ N/A N/A ↑↑
levels
4,4′-dimethylsterol ↑↑ ↑↑* ↑↑ ↑↑ ↑↑ N/A N/A ↑↑