Table 1.

Brain Imaging Features of Individuals with MACF1 Mutations

Subject ID	LIS with Brainstem Hypoplasia and Dysplasia								LIS Only
	LR14-088	LR17-434	LR16-306	LR17-450	LR04-067a1	LR04-067a2	LR18-077	LR18-0704	LR16-412
Protein Variants
GenBank: NM_012090.5a	p.Cys5177Phe	p.Cys5177Phe	p.Asp5228Tyr	p.Asp5228Tyr	p.Cys5230Phe	p.Cys5230Phe	p.Cys5230Gly	deletion	p.Gly4706Arg
MACF1-204b	p.Cys7135Phe	p.Cys7135Phe	p.Asp7186Tyr	p.Asp7186Tyr	p.Cys7188Phe	p.Cys7188Phe	p.Cys7188Gly	deletion	p.Gly6664Arg
Cerebral Hemispheres
LIS severity	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse	PGY diffuse
LIS gradient	P > A	P > A	P > A	P > A	A = P	A = P	P > A	P > A	P > A
LIS cortical thickness	thin (4–7 mm)	thin (4–7 mm)	thick (10–15 mm)	thick (10–15 mm)	thin (4–7 mm)	thin (4–7 mm)	thin (4–7 mm)	thin (4–7 mm)	thin (4–7 mm)
Hippocampal dysplasia	yes	yes	yes	yes	yes	yes	yes	subtle	subtle
Thin white matter	yes	yes	yes	yes	yes	yes	yes	yes	yes
Commissures
Anterior commissure	thin	thin	thinc	thin	borderline thin	borderline thin	thin	thin	normal
Corpus callosum	thin diffuse	thin diffuse	thin diffused	thin diffused	normal	normal	thin mild	normal	thin mild
Hippocampal commissure	normal	normal	normal	normal	normal	normal	normal	normal	normal
Optic chiasm	normal	normal	normal	normal	normal	normal	normal	normal	normal
Brainstem
Thick tectume	no	no	no	yes	no	no	no	no	no
Severe narrowing of pons	yes	yes	yes	yes	yes	yes	yes	yes	no
Wide pons and medulla	yes	yes	yes	yes	yes	yes	yes	yes	subtle
Base of pons	tiny	tiny	absentc	absent	small	small	small	tiny	no
Pontine hypoplasia	severe	severe (DTI)	severe	severe	moderate to severe	moderate to severe	moderate to severe	severe	no
Cerebellum
Vermis hypoplasia	moderate	mild	mild	mild	mild	mild	moderate	no	normal
Hemisphere hypoplasia	moderate	mild	mild	mild	mildf	mildf	mild	no	normal
Foliar dysplasia	yes	yes	yes	yes	yes	yes	yes	yes	no

Abbreviations are as follows: A = P, anterior gradient same as posterior gradient; DTI, diffusion tensor imaging; LIS, lissencephaly; P > A, posterior gradient more severe than anterior gradient; PGY, pachygyria.

^aGenBank: NM_012090.5 and transcript MACF1-203 (Ensembl: ENST00000361689.6).

^bTranscript MACF1-204 (Ensembl: ENST00000372915.7).

^cLow-resolution scan.

^dSevere hypoplasia of splenium.

^eFused colliculi.

^fRight smaller than left.