Table 1.

Clinical manifestations in patients with DDCH due to isolated BCAP31 mutation and due to Xq28 microdeletion

Characteristics	Isolated BCAP31 mutation					Xq28 microdeletion
	Family 1 Cacciagli et al.	Family2 Cacciagli et al.	Family3 Cacciagli et al.	Albanyan et al.	Current Patient	Osaka et al. Anselm et al.	Corzo et al. Kamp et al. Iwasa et al.	Corzo et al. Kamp et al. Calhoun et al.
Genotype	c.194−2A > G	Exon 8 deletion	c.97C > T	c.533_536dup	c.97C > T	BCAP31 and SLC6A8 deletion	BCAP31and ABCD1 deletion	BCAP31, SLC6A8 and ABCD1 deletion
Patient number	n = 2	n = 4	n = 1	n = 1	n = 1	n = 2	n = 4	n = 3
Age or Age at death	death at 13 and 24 years	death at 7 months−2 years except one living at 13 years	death at 3 years	living at 4.5 years	living at 8 years 8 months	one living at 9 years the other death at 8 years,	all death at 4–11 months	All death at 4–9 months
Developmental and cognitive status	no acquired motor milestones no cognitive sign	no acquired‐only head control except one sitting at 5 years	only head control no cognitive sign	no acquired motor milestones no cognitive sign	only head control and roll over, no speech	no acquired motor milestones	severe delay	no acquired motor milestones
Deafness	+	+ (n = 3)	+	+	+	+	+ (n = 3)	+ (n = 1)
Dystonia or Choreoathetosis	+	+ (n = 3)	+	+	+	+	+	+
Brain MRI	hypomyelination cerebral and cerebellar atrophy	hypomyelination	hypomyelination cerebral atrophy	high SI in globus pallidus	high SI in thalamus and globus pallidus cerebral atrophy	hypomyelination, high SI in basal ganglia or globus pallidus, cerebral and cerebellar atrophy	hypomyelination, white matter abnormalities	hypomyelination
Hepatobiliary abnormality	NMa	NMa	NMa	elevated transaminase	cholecystitis with gallbladder stones	Elevated transaminase	cholestasis fibrosis liver failure	cholestasis liver failure
Mitochondrial respiratory chain activity	NM	NM	normal	normal	significant decrease in complex I	significant decrease in complex I (n = 1)	NM	NM
Other mitochondrial abnormality	−	−	−	pleomorphic subsarcolemmal mitochondria	NE	NM	NM	NM

+, the feature present; −, the feature absent; SI, signal intensities; NM, the feature not mentioned; NE, the feature not evaluated.

^aThe feature was not mentioned according to each family, but four patients among all the families reported by Cacciagli displayed mild elevated transaminase.