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Table 1 Summary of the clinical and genetic data

From: 47 patients with FLNA associated periventricular nodular heterotopia

Family/pat Age at genetic diagnosis (years) Clinical subgroup Associated clinical findings (ACF) cDNAsequencealteration Proteinchange Mutation type
1   16,9 4 2 c.120delG heterozygous p.Trp41GlyfsX17 Frameshift
2   34,3 3   c.289C>T heterozygous de novo (both parents wildtype) p.Pro97Ser Missense
3   22,1    c.464G>A heterozygous de novo p.Trp155* Nonsense
4   31,8 2 0 c.961G>T heterozygous p.Glu321* Nonsense
5   37,6 4   c.1065+1G>C heterozygous IVS7+1G>C ds Splice site mutation
6   25,4 3 1 c.1065+1G>T heterozygous IVS7+1G>T ds Splice site mutation
7   17,1 4 1 c.1087C>T heterozygous p.Gln363* Nonsense
8   41,4 2 0 c.1351_1352insAG heterozygous p.Gly452ArgfsX47 Frameshift
9   32,1    c.1580_1581insCAGAAGGACCTGGGGGATG heterozygous p.Arg527ProfsX100 Frameshift
10   57,0    c.2022+1G>A heterozygous IVS13+1G>A ds Splice site mutation
11 II/1 3,4 4 0 c.2192dupA heterozygous maternal p.Tyr731* Nonsense
  I/1 31,9 3 0 c.2192dupA heterozygous de novo p.Tyr731* Nonsense
12   30,0 2 1 c.2565+2T>G heterozygous IVS17+2T>G ds Splice site mutation
13   19,0    c.2612dupA heterozygous de novo p.Asp871GlufsX4 Frameshift
14   17,9 1 1 c.2943_2944_ + 2delGAGT heterozygous de novo IVS20_-2_ + 2del ds Splice site mutation
15 II/1 33,3    c.2983_2987delTCAAA heterozygous maternal p.Ser995GlyfsX31 Frameshift
  I/1 55,4    c.2983_2987delTCAAA heterozygous p.Ser995GlyfsX31 Frameshift
16   17,2 2 2 c.3174delT heterozygous p.Leu1059TrpfsX12 Frameshift
17   16,6 2 1 c.3742C>T heterozygous p.Gln1248* Nonsense
18   37,3 3 1 c.4294C>T heterozygous p.Gln1432* Nonsense
19   51,7 3 0 Deletion exon 25 heterozygous ? Exondeletion
20   1,7    c.4303+2T>G heterozygous IVS25+2T>G ds Splice site mutation
21   18,0    c.4576G>T heterozygous p.Gly1526* Nonsense
22   12,4    c.4720delG heterozygous de novo p.Asp1574ThrfsX39 Frameshift
23 II/1 33,0 2 0 c.4994dupA heterozygous maternal p.Ile1666AspfsX12 Frameshift
  I/1 65,8    c.4994dupA heterozygous p.Ile1666AspfsX12 Frameshift
24a II/1a 30,7 1 0 c.5686G>A heterozygous paternal p.Gly1896Arg/Splice Splice site mutation
  II/2a 28,9 3 1 c.5686G>A heterozygous paternal p.Gly1896Arg/Splice Splice site mutation
  I/1 malea 62,2 2 0 c.5686G>A mosaicism p.Gly1896Arg/Splice Splicesitemutation
25   47,0 2 1 c.6321C>A heterozygous p.Cys2107* Nonsense
26   17,8    c.6898C>T heterozygous p.Gln2300* Nonsense
27   24,9 1 2 c.6908-2A>G heterozygous IVS42-2A>G Splice site mutation
28   2,5 4 2 c.6994_7003dupGCCCGCCGCC heterozygous p.Leu2335ArgfsX8 Frameshift
29 Male 38,2 2 3 c.7055_7070delCTTTTGCAGTCAGCCT mosaicism p.Ser2352* Nonsense
30   44,0 2 2 c.7075_7077delinsT heterozygous p.Gly2359CysfsX25 Frameshift
31   21,7    c.7115C>G heterozygous p.Ser2372* Nonsense
32 II/1 24,5 2 0 Heterozygous deletion exon 44 maternal Loss of function Exon deletion
  II/2 24,1 2 0 Heterozygous deletion exon 44 maternal Loss of function Exon deletion
  I/1 53,7 4 0 Heterozygous deletion exon 44 Loss of function Exon deletion
33   27,9    c.7223delG heterozygous de novo p.Gly2408AlafsX45 Frameshift
34   1,0 4 2 c.7255C>T heterozygous p.Arg2419* de novo Nonsense
35   42,2 2 0 c.7533delC heterozygous p.Phe2512SerfsX24 Frameshift
36   7,9 4 1 c.7714G>A heterozygous; unclassified variant p.Val2572Ile - VUS3 Missense/splice site mutation?
37   8,2 1 8 c.7840dupT heterozygous p.Tyr2614LeufsX136 Frameshift
38 II/1 16,5 4 1 Heterozygous deletion exons 40 to 3′UTR maternal Loss of function Exon deletion
  I/1 41,5 4 0 Heterozygous deletion exons 40 to 3′UTR de novo Loss of function Exon deletion
39   31,3 3 2 Deletion exon 46 + duplication exons 4–22 de novo (both parents wildtype) Loss of function Complex genomic rearrangement
  1. The two male patients are separately indicated in the family/patients row
  2. afamily 24 has previously been published including detailed clinical data [5] and surgical correction of gastrointestinal dysfunction of patient 34 in [23]