Table 3 Summary of ARSACS cases with deletion of chr13q12.12
Patient ID | Country | Deletion region | Length (Mb) | Involved genes | SNVs or small indels in SACS | Manifestations | MRI | Ref |
|---|---|---|---|---|---|---|---|---|
Patient #1 | China | chr13:23,520,000–24,940,000 | 1.801 | SACS, C1QTNF9B, C1QTNF9, MIPEP, SGCG, SPATA13, TNFRSF19 | c.8310_8313delAGAT (p.Asp2771fs4*) | Walking unstably, articulation disorders, pseudohypertrophic calves | - | This study |
Patient #2 | China | chr13:23,520,000–24,940,000 | 1.801 | SACS, C1QTNF9B, C1QTNF9, MIPEP, SGCG, SPATA13, TNFRSF19 | c.8310_8313delAGAT (p.Asp2771fs4*) | Walking unstably | - | This study |
- | African-American | - | 1.422 | 14 genes including SGCG, SACS, MIPEP | c.11824dupA (p.Met3942Asnfs*4) | Gait abnormality, gross motor delay, frequent falls, a below average IQ | Normal (3 Y), normal (5 Y) | [24] |
- | China | chr13:23,539,563−24,874,926 | 1.33 | SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9, a part of SPATA13 | c.11,803 C > T (p.Gln3935*) | Progressive peripheral neuropathy (CMTNS2 = 15) with horizontal gaze nystagmus, mild spastic gait | Cerebellum atrophy particularly in the vermis superior, mild atrophy of the spinal cord and linear T2 hypointensities in the basis pontis | [25] |
Patient II−1 | United Kingdom | Chr13:23,772,658−24,489,253 | 0.7 | SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9 | c.13048G > T (p.Glu4350*) | Clumsiness, a poor sporting performance, gait ataxia, slurred speech, urinary urgency | - | [26] |
Patient II−2 | United Kingdom | Chr13:23,772,658−24,489,253 | 0.7 | SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9 | c.13048G > T (p.Glu4350*) | Early-onset cerebellar ataxia, spastic paraparesis | Marked cerebellar vermian atrophy, moderate diffuse cortical atrophy, a normal brainstem, but reduced spinal cord diameter | [26] |
- | Belgian | - | 1.54 | SGCG, SACS, TNFRSF19, MIPEP, SPATA13, C1QTNF9 | c.10517T > C (p.Phe3506Ser) | Early-onset cerebellar ataxia, progressive spasticity, learning difficulties, hearing loss | Atrophy of the vermis superior and the superior cerebellar peduncles | [22] |
Patient 1-LF | Italian | - | ~ 1.5 | SGCG, SACS, TNFRSF19, MIPEP, SPATA13, C1QTNF9 | c.600_604 + 1delAACAGG (p.Ile202fs*6) | Early-onset cerebellar ataxia, dysarthria, distal amyotrophy of all limbs, hearing impairment | Vermian atrophy | [23] |
Patient 2-MPG | Italian | - | ~ 1.5 | SGCG, SACS, TNFRSF19, MIPEP, SPATA13, C1QTNF9 | c.6680T > C (p.Leu2374Ser) | Developmental motor delay, early-onset cerebellar ataxia, spastic paraparesis, mild intellectual decline, impaired night vision, hearing loss | Marked cerebellar atrophy, mainly affecting the vermis | [23] |