Supplementary Table A, Table B,and Table C
Table A.
Disease-causing mutations in the L1CAM gene
Family ID / Nucleotide change / Exon/intron / Consequence / Clinical data / # affected family members / Remarks / Reference
312 / c.2T>C / exon 1 / p.Met1? / Unknown / 1
145 / c.76+1G>A / intron 1 / RNA splicing defect / HC, AT, HP / 2
152 / c.78T>A / exon 2 / p.Tyr26X / HC, AT / 1
248 / c.92-2A>G / intron 2 / RNA splicing defect / HC, ? / 3
292 / c.110T>A / exon 3 / p.Ile37Asn / HC, ? / 4
106 / c.196C>T** / exon 3 / p.Gln66X / HC, AT, MR, ACC, SP, HP / 2 / 10
14 / c.198-2A>T* / intron 3 / RNA splicing defect / HC,? / 3 / 32
251 / c.325C>T / exon 4 / p.Gln109X / HC, AT, MR, ACC / 1
63 / c.397G>T / exon 4 / p.Glu133X / HC,? / 1 / de novo by mother
294 / c.400+5G>C / intron 4 / RNA splicing defect / HC, AT / 1
196 / c.414G>A / exon 5 / p.Trp138X / HC, ? / 1
89 / c.536T>G* / exon 6 / p.Ile179 Ser / HC, SP / >1 / 31
56 / c.550C>G / exon 6 / p.Arg184Gly / HC, AT, MR, Aph, SP, HP / 10
235 / c.551G>A* / exon 6 / p.Arg184Gln / HC? / 1 / 30
52 / c.559_594del36 / exon 6 / p.Met187_Val198del / unknown / 1
169 / c.588_595del8 / exon 6 / p.Asn197SerfsX37 / HC, AT, MR, Aph / 5 / de novo by mother
27 / c.604G>T** / exon 6 / p.Asp202Tyr / HC, AT, MR, ACC, Aph, SP / 1 / 26
329 / c.645C>T / exon 6 / p.=
Splice defect: 51 bp deleted / HC, AT / 2 / mosaicism by mother
164 / c.761C>A / exon 7 / p.Ala254Asp / HC, ? / 4
3 / c.778_785del8 / exon7 / p.Leu260GlyfsX45 / HC, AT, MR, Aph, SP / 2
348 / c.826T>C / exon 8 / p.Trp276Arg / HC, AT / 1 / de novo by mother
35 / c.938T>C / exon 8 / p.Leu313Pro / HC, AT, ACC / 1 / de novo
66 / c.991+1G>A / intron 8 / RNA splicing defect / HC, AT, ? / 2
163 / c.991+2T>C* / intron 8 / RNA splicing defect / HC, ? / 2 / de novo by mother / 32
187 / c.1003T>C* / exon 9 / p.Trp335Arg / unknown / 1 / 34
182 / c.1097G>A / exon 9 / p.Trp366X / HC, DCC / 2 / de novo by mother
Family ID / Nucleotide change / Exon/
intron / Consequence / Clinical data / # affected family members / Remarks / Reference
184 / c.1107C>A / exon 9 / p.Asn369Lys / HC, MR, Aph, DCC, SP, HP / 3
91 / c.1243G>C** / exon 10 / p.Ala415Pro / HC, AT, MR, Aph, ACC, SP / 4 / 9
29 / c.1267C>T* / exon 10 / p.Gln423X / HC / 3 / 32
305 / c.1267+1G>A* / intron 10 / RNA splicing defect / HC, AT, MR, Aph, ACC, SP / 1 / 27
342 / c.1268-1G>A / intron 10 / RNA splicing defect / HC, AT, ? / 1
36 / c.1438G>A / exon 12 / p.Gly480Arg / unknown / 2
108 / c.1546+2T>A / intron 12 / RNA splicing defect / HC, AT, MR, SP / 3
222 / c.1547-2A>T / intron 12 / RNA splicing defect / HC, AT, ? / 3
208 / c.1933A>T / exon 15 / p.Ile645Phe / unknown / 1 / de novo
12 / c.1939+1G>A / intron 15 / RNA splicing defect / HC, ? / 1
149 / c.1940-1G>A / intron 15 / RNA splicing defect / HC / 3
92 / c.1986G>A / exon 16 / p.Trp662X / HC, ? / 2
23 / c.2140C>T / exon 17 / p.Pro714Ser / HC, MR, Aph, ACC, SP / 1
254 / c.2215delC / exon 18 / p.Arg739GlyfsX112 / HC, AT, HP / 1
80,
156,
336 / c.2254G>A* / exon 18 / p.Val752Met / 1. HC,AT,MR,Aph,ACC,SP,HP
2. HC,?
3. HC, ? / 7
4
2 / 28
275 / c.2260T>A / exon 18 / p.Trp754Arg / HC, ? / 3
368 / c.2267delC** / exon18 / p.Pro756leufs95X / HC, AT, MR, SP, HSCR / 1 / 19
227 / c.2278C>T / exon 18 / p.Arg760X / HC, AT, MR, Aph, SP / 2
181 / c.2344_2364dup / exon 18 / p.Val782_Val788dup / AT, MR, SP / 3
252 / c.2365C>T / exon 18 / p.Gln789X / HC, AT, ? / 1
116 / c.2433C>G / exon 19 / p.Tyr811X / HC, ? / 2
360 / c.2673C>A / exon 20 / p.Tyr891X / HC, AT, MR, Aph, ACC, SP / 1
134 / c.2701C>T* / exon 20 / p.Arg901X / HC, AT / 2 / 30
24,
60 / c.2885dupG / exon 22 / p.Lys963GlnfsX41 / 1. HC, AT, DCC
2. HC, ? / 1
3 / de novo by mother
295 / c.2919delC / exon 22 / p.Glu974AsnfsX7 / unknown / 2
74 / c.2934_2935delCA / exon 22 / p.His978GlnfsX25 / HC, AT, ? / 1
325 / c.3166+2T>A / intron 23 / RNA splicing defect / HC / 2
266 / c.3191C>A / exon 24 / p.Ser1064X / HC, AT, MR, SP, HP / 7
119 / c.3211_3213delAAC / exon 24 / p.Asn1071del / HC, ? / 3
162 / c.3239T>A / exon 24 / p.Leu1080Gln / HC, AT, MR, SP / 2
331 / c.3531-1G>A / intron 26 / RNA splicing defect / HC, ? / 1
Family ID / Nucleotide change / Exon/
intron / Consequence / Clinical data / # affected family members / Remarks / Reference
62,
126 / c.3531-12G>A* / intron 26 / RNA splicing defect / 1.HC, AT, ?
2. AT, MR / 3
1 / de novo / 29
229 / c.3772dupT / exon 28 / p.X1257LeufsX96 / MR, ACC, SP / 1 / de novo by mother
178 / c.(?_77)_(1267+_?)dup / exons
2-10 / duplication / HC, AT, MR / 1
146 / c.(?_-145)_(*731_?)del** / deletion entire gene / HC, AT, MR, Aph, HP / 1 / de novo / 18
* Previously found by other groups
** Previously published with our co-operation
HC = hydrocephalus, AT = adducted thumbs, MR = mental retardation, SP = spastic paraplegia, Aph = aphasia,
ACC/DCC = (dys)agenesis corpus callosum, HP = Hypotonia, HSCR = Hirschsprung’s disease, ? = unknown
Table B
Likely disease-causing mutations
Family id / Nucleotide change / Exon/intron / Consequence / Clinical data / # affected family members / Remarks
61, 148 / c.76+5G>A / intron 1 / ? / 1.HC, ?
2.HC, ? / 9
2
366 / c.516G>A / exon 5 / p.Met172Ile / HC, MR, SP / 2
245 / c.523+9_523+10CG>GA;
c.523+12delC / intron 5 / ? / HC, AT, MR, SP / 6
200 / c.1546G>A / exon 12 / p.Asp516Asn / HC, AT, MR, Aph, SP, HP / 1 / de novo by mother
302 / c.1546G>T / exon 12 / p.Asp516Tyr / unknown / 1
95 / c.1574G>A / exon 13 / p.Arg525His / SP / 5
320 / c.1880C>T / exon 15 / p.Thr627Met / HC, ? / 1
Table C
Likely non disease-causing mutations/polymorphism
Family ID / Nucleotide change / Exon/intron / Consequence / Clinical data / # affected family members / Remarks
54 / c.30C>A / Exon 1 / p.= / HC / 1
34 / c.113C>T / Exon 3 / p.Thr38Met / HC, AT, MR, Aph, SP / 1 / Also found in an other patient with a nonsense mutation
30 / c.523+6T>G / Intron 5 / None / HC, AT, MR / 1 / No influence on RNA splicing
153 / c.992-32C>T / intron 8 / ? / unknown / 1
174 / c.1977T>C / Exon 16 / p.= / AT, MR, Aph, SP / 1
136,
137,
144 / c.3458-34C>T / Intron 25 / 1.AT, MR, SP
2.HC
3. HC, AT, MR / 3
5
1 / Also found in an other patient with a nonsense mutation