Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Kanemura et al	2005	Congenital Anomalies	67-69	45	First case of L1CAM gene mutation identified in MASA syndrome in Asia	15904436

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Cytopl.	Exon 26	c.3496C->T	p.Arg1166X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.3496C->T	p.Arg1166X	Exon 26	(Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia	> 10 yrs