Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Jouet et al.1994Nat. Genet.402-4077X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene 7920659

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.551G>Ap.Arg184GlnMissenseDisease-causing Details
Ig 2Exon 6c.630C>Gp.His210GlnMissenseDisease-causing Details
Ig 5Exon 11c.1354G>Ap.Gly452ArgMissenseDisease-causing Details
Ig 5Exon 12c.1453C>Tp.Arg485XNonsenseDisease-causing Details
Fn 3Exon 20c.2721C>Tp.=SilentNon disease-causing Details
Fn 4Exon 22c.2885delGp.Gly962AlafsX19Deletion; frameshiftDisease-causing Details
Cytopl.Exon 26c.3489_3490delTGp.Glu1164GlyfsX7Deletion; frameshiftDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 15 c.551G>A p.Arg184GlnExon 6 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 10/15
2 5 c.630C>G p.His210GlnExon 6 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Hydrocephalus 1/5. Died before the age of 1yr:0/5
3 3 c.1354G>A p.Gly452ArgExon 11 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia Died < 1yr 2/3.
4 4 c.1453C>T p.Arg485XExon 12 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation Died < 1 yr: 4/4
5 1 c.2885delG p.Gly962AlafsX19Exon 22 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia >1 yr. Family H24 in ref
6 6 c.3489_3490delTG p.Glu1164GlyfsX7Exon 26 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia Died <1 yr: 0/6
7 15 c.2721C>T p.=Exon 20 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia In this family a disease-causing mutation (p.Arg184Gln) was detected in addition to the silent mutation