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Table 2 Features of 10 atypical A-T patients with compound heterozygous SNV and CNV in ATM

From: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Patient Sex Age (year) Phenotype (age, year) Serum AFP Pathogenic variants Immunoglobulin levels (mg/dL) References
Allele 1 Allele 2 Ig G Ig A Ig M
1 F 13 Ataxia (4) telangiectasia (1), cerebellar atrophy 325 Exon 22
c.3174G > A
Exon 63
Large genomic deletion
8800 1170 1070 Huang [18]
2 F 4 Start walking (1.5), movement abnormalities (1.5), normal brain MRI normal ophthalmologic exploration 214 Exon 47
c.6899G > C
Exon 17–61
g.(41245_49339)_
(137044_147250)dup
947  < 5 87 Martin-Rodriguez [39]
3 F 6 Ataxia (1.4), telangiectasia (3) Exon 62, 63
Large genomic deletion
Exon 42
c.5932G > T
NA Podralska [40]
4 NA NA Ataxia < 8, typical phenotype NA Exon 18–33
c.(2638 + 1_2639–1)_ (5005 + 1_5006–1)dup
NA NA NA Fiévet [37]
5 NA NA Ataxia > 8, Loss of walking ability > 15, Oculomotor apraxia > 15 NA Exon 17–61
c.(2466 + 1_2467–1)_ (8850 + 1_8851–1)dup
NA NA N NA Fiévet [37]
6 F 2 Ataxia (0.7),
Absent presentation of telangiectasia, malignancy, respiratory disease, immunodeficiency
24 Exon 24
c.3576G > A; p.(Ser1135_Lys1192del58)
Exon NA
c.(-31 + 1674_46) _(2405_2541)del (deletion)
NA NA NA van Os [41]
7 NA NA NA NA Exon 07–17 deleted
p.Arg111_Arg2191 > AsnfsX44
NA NA NA NA Micol [42]
8 NA NA NA NA Exon 08–15 deleted
p.Glu166_Glu708 > AspfsX29
NA NA NA NA Micol [42]
9 NA NA NA NA Exon 59–61 deleted
p.Val2758_Gly2891 > ValfsX46
NA NA NA NA Micol [42]
10 NA NA NA NA Exon 64–65 deleted
p.Val2951_X3057 > SerfsX29
NA NA NA NA Micol [42]
  1. MRI magnetic resonance imaging, N normal, NA not available, ↓ decreased (compared to age-related reference values), ↑ increased (compared to age-related reference values)