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