Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Kanemura et al	2006	J Neurosurg: Pediatrics	403-412	105	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	17328266

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details
Sign.pept.	Exon 1	c.74A>T	p.Glu25Val	Missense	Disease-causing	Details
n.a.	Intron 2	c.92-1G>A	p.?	Splice site	Disease-causing	Details
n.a.	Intron 3	c.197+1G>A	p.?	Splice site	Disease-causing	Details
n.a.	Intron 4	c.400+1G>A	p.?	Splice site	Disease-causing	Details
Ig 2	Exon 5	c.474delC	p.Cys158X	Deletion	Disease-causing	Details
Ig 2	Exon 6	c.665delA	p.Lys222ArgfsX14	Deletion; frameshift	Disease-causing	Details
n.a.	Intron 6	c.694+5G>A	p.?	RNA splicing defect	Disease-causing	Details
Ig 3	Exon 8	c.870C>A	p.Tyr290X	Nonsense	Disease-causing	Details
Ig 3	Exon 8	c.935G>A	p.Cys312Tyr	Missense	Disease-causing	Details
Ig 5	Exon 11	c.1373T>A	p.Val458Asp	Missense	Disease-causing	Details
n.a.	Intron 13	c.1704-1G>A	p.?	Splice site	Disease-causing	Details
n.a.	Intron 14	c.1829-1G>C	p.?	Splice site	Disease-causing	Details
n.a.	Intron 14	c.1829-31_1829-12del	p.?	Branch point	Unknown	Details
n.a.	Intron 15	c.1940-21_1940-6delinsCATGT	p.?	Branch point	Unknown	Details
Fn 1	Exon 16	c.2065G>T	p.Val689Phe	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2250C>A	p.Tyr750X	Nonsense	Disease-causing	Details
Fn 2	Exon 18	c.2254G>A	p.Val752Met	Missense	Disease-causing	Details
n.a.	Intron 18	c.2431+2_2431+3delTG	p.?	Splice site	Disease-causing	Details
Fn 3	Exon 20	c.2578A>T	p.Lys860X	Nonsense	Disease-causing	Details
Fn 3	Exon 20	c.2701C>T	p.Arg901X	Nonsense	Disease-causing	Details
Fn 4	Exon 21	c.2858T>G	p.Leu953Arg	Missense	Disease-causing	Details
n.a.	Intron 21	c.2872+1G>A	p.?	Splice site	Disease-causing	Details
Fn 4	Exon 22	c.2885delG	p.Gly962AlafsX19	Deletion; frameshift	Disease-causing	Details
n.a.	Intron 22	c.3047-1G>A	p.?	Splice site	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Family history positive	c.74A>T	p.Glu25Val	Exon 1	Unknown
2	1	c.935G>A	p.Cys312Tyr	Exon 8	Hydrocephalus, ?	Severe
3	2	c.197+1G>A	p.?	Intron 3	Adducted thumbs, Hydrocephalus, Spastic paraplegia	Both severe
4	>1	c.400+1G>A	p.?	Intron 4	Hydrocephalus, Spastic paraplegia	> 3 yrs
5	1	c.474delC	p.Cys158X	Exon 5	Hydrocephalus, Spastic paraplegia	> 3 yrs
6	1	c.665delA	p.Lys222ArgfsX14	Exon 6	Adducted thumbs, Hydrocephalus, Spastic paraplegia
7	2	c.694+5G>A	p.?	Intron 6	Adducted thumbs, Hydrocephalus, Spastic paraplegia	Index case > 7 yrs
8	>1	c.870C>A	p.Tyr290X	Exon 8	Hydrocephalus, Spastic paraplegia	> 8 yrs
9	1	c.870C>A	p.Tyr290X	Exon 8	Hydrocephalus, Spastic paraplegia
10	1	c.92-1G>A	p.?	Intron 2	Hydrocephalus, Spastic paraplegia
11	>1	c.1373T>A	p.Val458Asp	Exon 11	Hydrocephalus, ?	Terminated pregnancy
12	1	c.1704-1G>A	p.?	Intron 13	Adducted thumbs, Hydrocephalus, Spastic paraplegia	47,XXY
13	1	c.1829-1G>C	p.?	Intron 14	Adducted thumbs, Hydrocephalus, Spastic paraplegia
14	1	c.1829-31_1829-12del	p.?	Intron 14	Unknown
15	>1	c.1940-21_1940-6delinsCATGT	p.?	Intron 15	Unknown
16	2	c.2065G>T	p.Val689Phe	Exon 16	Adducted thumbs, Hydrocephalus, Spastic paraplegia	> 1yr; 2/2
17	1	c.2250C>A	p.Tyr750X	Exon 18	Adducted thumbs, Hydrocephalus, Spastic paraplegia
18	1	c.2254G>A	p.Val752Met	Exon 18	Adducted thumbs, Hydrocephalus, Spastic paraplegia
19	>2	c.2431+2_2431+3delTG	p.?	Intron 18	Adducted thumbs, ?
20	2	c.2578A>T	p.Lys860X	Exon 20	Adducted thumbs, Hydrocephalus, Spastic paraplegia	> 4 yrs: 2/2
21	1	c.2701C>T	p.Arg901X	Exon 20	Adducted thumbs, Hydrocephalus, Spastic paraplegia
22	2	c.2858T>G	p.Leu953Arg	Exon 21	Adducted thumbs, Hydrocephalus, Spastic paraplegia
23	1	c.2872+1G>A	p.?	Intron 21	Unknown
24	1	c.2885delG	p.Gly962AlafsX19	Exon 22	Adducted thumbs, Hydrocephalus, Spastic paraplegia
25	2	c.3047-1G>A	p.?	Intron 22	Adducted thumbs, Hydrocephalus, Spastic paraplegia