A Novel Constitutively Active , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

Table 2

Summary of the clinical features of individuals with DNM RAB11A variants.

Case	Gender	DNM variant	Cognitive and behavioral features	Brain MRI	Epilepsy	Associated neurological features	Miscellaneous features	Reference
#1	Male	p.(K24R)	GDD, moderate ID	Central brain atrophy, bilateral periventricular white matter damage, thin CC	None	Acquired microcephaly, axial hypotonia, aggressive behavior	Obesity	[10]
#2	Female	p.(R82C)	GDD, severe ID	Diffuse atrophy, partial agenesis of CC, delayed myelination	Infantile spasm	Acquired microcephaly, axial hypotonia		[10]
#3	NA	p.(K13N)	DD unspecified	NA	NA	NA		[11]
#4	Male	p.(S154L)	Moderate GDD	Partial agenesis of CC	None	Distractible, possibly ADHD		[11]
#5	Female	p.(S154L)	Moderate ID	ND	None	Possible hyperactivity	Obesity	[11]
#6	NA	p.(K125N)	GDD, ID	Agenesis of CC, hypomyelination	None	Microcephaly, nystagmus		[12]
#7	NA	p.(D127G)	ID	Agenesis of CC, abnormal myelination, abnormal cortical gyration	Seizure unspecified	Visual impairment	Dysmorphism	[12]
#8	Male	p.(R33P)	Severe ID	Thin CC, hypomyelination	None	Hypotonia		Present case

Abbreviations are as follows: ADHD: attention-deficit hyperactivity disorder; CC: corpus callosum; DD: developmental disorder; DDD: deciphering developmental disorders; DNM: de novo missense; GDD: global developmental delay; ID: intellectual disability; MRI: magnetic resonance imaging; NA: not available; ND: not done.