MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions

BMC Medical Genetics

Table 3 Summary of clinical data observed in other ARXdup24 families

Families	Mental handicap	Minor anomalies	Behavior	MRI/CT scan	References
MRX54	Moderate to profound	Long face, thin lips, large ears, epilepsy	Aggressive	Normal	[14]
P73-MRX	Moderate	No	Language deficit	Normal	[14]
P49-MRX	Moderate	Dystonia	Language deficit, hyperkinesia	Normal	[14]
MRX36	Moderate to severe	No	Normal	Normal	[14]
MRX43	Moderate to severe	Obesity, large head, epilepsy	Normal	ND	[14]
MRX76	Moderate	Wolff-Parkinson- White	Depressive and psychotic features	ND	[14]
P34-MRX	Severe	General developmental delays, dystonic hand movements	Language deficit	Normal	[6]
P104-MRX	Severe	No	No	Normal	[6]
P106-MRX	Moderate	No	Severe language development delay	Normal	[6]
T37-MRX	Severe	Long chin and deep-set eyes, strabismus, neonatal hypotonia	Learning and walking difficulties	Normal	[6]
*ARX* family	Severe	Hypertelorism, broad nasal root, cleft upper lip, growth hormone deficiency	Psychomotor delay	Transsphenoidal encephalocele and agenesis of corpus callosum (ACC) and hypopituitarism	[27]

ISSN: 1471-2350