Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Finckh et al.2000Am. J. Med. Genet.40-4692Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease 10797421

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
NoneExon 2c.79G>Tp.Glu27XNonsenseDisease-causing Details
NoneExon 2c.84dupAp.His29ThrfsX24Duplication; frameshiftDisease-causing Details
NoneExon 2c.88C>Ap.His30AsnMissenseUnknown Details
n.a.Intron 3c.197+17G>Ap.?Intronic variationLikely non disease-causing Details
n.a.Intron 3c.197+5G>Cp.?RNA splicing defectDisease-causing Details
n.a.Intron 3c.198-2A>Tp.?Splice siteDisease-causing Details
Ig 1Exon 4c.316C>Tp.Gln106XNonsenseDisease-causing Details
n.a.Intron 5c.523+12C>TnoneIntronic variationNon disease-causing Details
n.a.Intron 5c.524-12T>Anone?Intronic variationUnknown Details
n.a.Intron 5c.524-1G>Ap.?Splice siteDisease-causing Details
Ig 2Exon 6c.550C>Tp.Arg184TrpMissenseDisease-causing Details
Ig 2Exon 6c.591T>Cp.=SilentNon disease-causing Details
Ig 2Exon 6c.614_615delinsAGp.Ser205XNonsenseDisease-causing Details
Ig 2Exon 6c.666delGp.Glu223AsnfsX13Deletion; frameshiftDisease-causing Details
n.a.Intron 7c.806+1G>Cp.?Splice siteDisease-causing Details
Ig 3Exon 8c.855C>Tp.=SilentNon disease-causing Details
n.a.Intron 8c.991+2T>Cp.?Splice siteDisease-causing Details
n.a.Intron 8c.992-1G>Ap.?Splice siteDisease-causing Details
Ig 4Exon 9c.1005G>Tp.Trp335CysMissenseDisease-causing Details
Ig 4Exon 9c.1108G>Ap.Gly370ArgMissenseDisease-causing Details
Ig 4Exon 10c.1223A>Tp.Asn408IleMissenseDisease-causing Details
Ig 4Exon 10c.1262T>Ap.Val421AspMissenseDisease-causing Details
Ig 4Exon 10c.1267C>Tp.Gln423XNonsenseDisease-causing Details
Ig 5Exon 12c.1490G>Ap.Cys497TyrMissenseDisease-causing Details
n.a.Intron 12c.1546+2T>Cp.?Splice siteDisease-causing Details
Ig 6Exon 13c.1666delGp.Asp556Thrfs16Deletion; frameshiftDisease-causing Details
Ig 6Exon 13c.1672C>Tp.Arg558XNonsenseDisease-causing Details
n.a.Intron 13c.1704-17_1704-20delTCTGnoneIntronic variationNon disease-causing Details
Ig 6Exon 14c.1786G>Tp.Glu596XNonsenseDisease-causing Details
Fn 1Exon 16c.1979 del Ap.Lys661AsnfsX32Deletion; frameshiftDisease-causing Details
Fn 1Exon 16c.2071G>Ap.Ala691ThrMissenseDisease-causing Details
n.a.Intron 17c.2209-2A>Gp.?Splice siteDisease-causing Details
Fn 2Exon 18c.2215C>Tp.Arg739TrpMissenseUnknown Details
Fn 2Exon 18c.2252G>Cp.Arg751ProMissenseDisease-causing Details
Fn 2Exon 18c.2313 del Cp.Phe772SerfsX79Deletion; frameshiftDisease-causing Details
n.a.Intron 18c.2431+2_2431+3delTGp.?Splice siteDisease-causing Details
Fn 3Exon 20c.2746G>Tp.Gly916XNonsenseDisease-causing Details
Fn 4Exon 22c.2892delGp.Gln965AsnfsX16Deletion; frameshiftDisease-causing Details
Fn 5Exon 23c.3165_3166delAGp.Glu1056ArgfsX27Deletion; frameshiftDisease-causing Details
Cytopl.Exon 25c.3452_3455del4p.Tyr1151XDeletion; frameshiftDisease-causing Details
Cytopl.Exon 26c.3496C->Tp.Arg1166XNonsenseDisease-causing Details
n.a.Intron 26c.3530+3A>Tp.?RNA splicing defectDisease-causing Details
Cytopl.Exon 28c.3716G>Ap.Gly1239GluMissenseNon disease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.79G>T p.Glu27XExon 2 Adducted thumbs, Hydrocephalus, Mental retardation  
2 2 c.197+5G>C p.?Intron 3 Hydrocephalus Oldest mutation carrier: 5 yrs
3 1 c.591T>C p.=Exon 6 Mental retardation  
4 1 c.806+1G>C p.?Intron 7 Adducted thumbs, Hydrocephalus, Mental retardation 4 yrs
5 2 c.1005G>T p.Trp335CysExon 9 Hydrocephalus Oldest mutation carrier: 0 yr
6 1 c.1223A>T p.Asn408IleExon 10 Hydrocephalus  
7 1 c.1262T>A p.Val421AspExon 10 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus 1 yr
8 >2 c.84dupA p.His29ThrfsX24Exon 2 Unknown  
9 >1 c.88C>A p.His30AsnExon 2 Adducted thumbs, Hydrocephalus, Mental retardation p.Glu27X was also found in this patient
10 ? c.197+17G>A p.?Intron 3 Hydrocephalus  
11 >2 c.198-2A>T p.?Intron 3 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 16 yrs
12 >2 c.316C>T p.Gln106XExon 4 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr
13 Unknown c.523+12C>T noneIntron 5 Adducted thumbs, Hydrocephalus  
14 Unknown c.523+12C>T noneIntron 5 Adducted thumbs, Hydrocephalus  
15 Unknown c.524-12T>A none?Intron 5 Adducted thumbs, Hydrocephalus  
16 1 c.524-1G>A p.?Intron 5 Adducted thumbs, Hydrocephalus 1 yr
17 >2 c.550C>T p.Arg184TrpExon 6 Hydrocephalus Oldest mutation carrier: 1 yr
18 >2 c.614_615delinsAG p.Ser205XExon 6 Hydrocephalus 0 yr
19 >2 c.666delG p.Glu223AsnfsX13Exon 6 Hydrocephalus Oldest mutation carrier: 2 yr
20 1 c.855C>T p.=Exon 8 Hydrocephalus  
21 2 c.991+2T>C p.?Intron 8 Adducted thumbs, Hydrocephalus, Mental retardation Index case: >10 yrs
22 >2 c.992-1G>A p.?Intron 8 Adducted thumbs, Hydrocephalus  
23 1 c.1108G>A p.Gly370ArgExon 9 Unknown Hydrocephalus?
24 1 c.1267C>T p.Gln423XExon 10 Hydrocephalus 0 yr
25 1 c.1490G>A p.Cys497TyrExon 12 Hydrocephalus Died shortly after birth
26 2 c.2071G>A p.Ala691ThrExon 16 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr
27 >2 c.2252G>C p.Arg751ProExon 18 Hydrocephalus Oldest mutation carrier: 0 yr
28 1 c.1672C>T p.Arg558XExon 13 Hydrocephalus 0 yr
29 >2 c.1786G>T p.Glu596XExon 14 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Oldest mutation carrier: 4 yrs
30 1 c.2746G>T p.Gly916XExon 20 Hydrocephalus 0 yr
31 >2 c.3496C->T p.Arg1166XExon 26 Adducted thumbs, Hydrocephalus, Mental retardation Oldest mutation carrier: 40 yrs
32 2 c.1666delG p.Asp556Thrfs16Exon 13 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Oldest mutation carrier: 6 yrs
33 1 c.1979 del A p.Lys661AsnfsX32Exon 16 Adducted thumbs, Hydrocephalus 0 yr
34 >2 c.3165_3166delAG p.Glu1056ArgfsX27Exon 23 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr
35 1 c.1546+2T>C p.?Intron 12 Hydrocephalus, Mental retardation 2 yrs
36 >2 c.2209-2A>G p.?Intron 17 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr
37 >2 c.2431+2_2431+3delTG p.?Intron 18 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr
38 1 c.3530+3A>T p.?Intron 26 Adducted thumbs, Hydrocephalus 0 yr
39 Unknown c.1704-17_1704-20delTCTG noneIntron 13 Hydrocephalus  
40 1 c.3716G>A p.Gly1239GluExon 28 Hydrocephalus Died shortly after birth.
41 >2 c.2215C>T p.Arg739TrpExon 18 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia p.Glu596X was also found in this patient
42 1 c.2313 del C p.Phe772SerfsX79Exon 18 Unknown 11 yrs
43 1 c.2892delG p.Gln965AsnfsX16Exon 22 Adducted thumbs, Hydrocephalus 0 yr
44 >2 c.3452_3455del4 p.Tyr1151XExon 25 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus Age of oldest mutation carrier in the family: 0 yr