A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Table 2.

Repeat expansion variant findings

Individual ID Sex Age at testing Age at onset FHx of CA Gene Disease Inheritance Variant motif EH5 RE size Straglr RE size PCR RE size Zygosity Clinical presentation
P066 F 49 47 − ATXN8/ATXN8OS SCA8 AD (CAG)n/(CTG)n 100 124 134 Het CA
P110 F 81 76 − ATXN8/ATXN8OS SCA8 AD (CAG)n/(CTG)n 150 768 Expandede Het CABV
P003a M 74 62 − FGF14 SCA27B AD (GAA)n 134 288 286 Het CABV, ANS dysfunction, and chronic cough
P004a F 71 55 − FGF14 SCA27B AD (GAA)n 105 327b 346 Het CA and chronic cough
P005a M 76 58 − FGF14 SCA27B AD (GAA)n 101 328b 308 Het CABV, ANS dysfunction and hyperreflexia
P013a M 60 47 − FGF14 SCA27B AD (GAA)n 126 445b 447 Het CA
P014a M 77 70 − FGF14 SCA27B AD (GAA)n 150 260 310 Het CABV, hyperreflexia and parkinsonism
P022a M 69 ND − FGF14 SCA27B AD (GAA)n 114 108b,c >400 Het CA and spasticity
P025 F 74 44 + FGF14 SCA27B AD (GAA)n 118 311 315 Het CABV and chronic cough
P026a F 71 69 − FGF14 SCA27B AD (GAA)n 138 16b,c 293 Het CA
P038a M 57 46 − FGF14 SCA27B AD (GAA)n 95 324b 313 Het CA and spasticity
P040a F 69 58 − FGF14 SCA27B AD (GAA)n 188 126b >400 Het CAUV, ANS dysfunction, and hyperreflexia
P042a F 80 59 − FGF14 SCA27B AD (GAA)n 126 252 253 Het CABV
P045 M 72 ND − FGF14 SCA27B AD (GAA)n 145 329 349 Het CABV
P050a M 73 67 − FGF14 SCA27B AD (GAA)n 130 270b 265 Het CABV
P052a F 87 77 − FGF14 SCA27B AD (GAA)n 117 277b 281 Het CA
P063 F 76 ND + FGF14 SCA27B AD (GAA)n 119 325b 327 Het CA and Hashimoto's thyroiditis
P064 F 76 71 − FGF14 SCA27B AD (GAA)n 182 255b 287 Het CA
P067 M 82 69 − FGF14 SCA27B AD (GAA)n 186 265 267 Het CABV
P068 M 76 71 − FGF14 SCA27B AD (GAA)n 133 249b 268 Het CA
P072 M 54 51 + FGF14 SCA27B AD (GAA)n 146 288 289 Het Episodic CA
P090 M 77 70 + FGF14 SCA27B AD (GAA)n 109 310 315 Het CA
P100 F 76 65 + FGF14 SCA27B AD (GAA)n 90 378 374 Het CABV
P101 M 70 50 + FGF14 SCA27B AD (GAA)n 151 316 317 Het Episodic CA
P106 F 64 60 + FGF14 SCA27B AD (GAA)n 148 316 310 Het CA
P107 M 77 ND + FGF14 SCA27B AD (GAA)n 101 325 322 Het CA
P095 M 32 15 − FXN FRDA AR (GAA)n 127
127 		947
295 		Expandedd
Expandedd		 Hom CA and upgoing plantar reflexes
P023 M 61 56 + NOP56 SCA36 AD (GGCCTG)n 317 5b Expandede Het CA
P069 M 70 ND − RFC1 CANVAS AR (AAGGG)n 84
84 		No call Expandede Hom CANVAS
P078 M 74 ND − RFC1 CANVAS AR (AAGGG)n 61
61 		872c Expandede Hom CANVAS
P079 F 79 ND − RFC1 CANVAS AR (AAGGG)n 44
44 		794c Expandede Hom CANVAS
P093 M 67 63 − RFC1 CANVAS AR (AAGGG)n 60
60 		944c Expandede Hom CANVAS
P097 M 81 55 − RFC1 CANVAS AR (AAGGG)n 30
48 		No call Expandede Hom CANVAS

  • M, male; F, female; ND, no data available; FHx, family history; CA, cerebellar ataxia; −, absent; +, present; SCA, spinocerebellar ataxia; FRDA, Friedreich ataxia; CANVAS, cerebellar ataxia neuropathy and vestibular areflexia syndrome; AD, autosomal dominant; AR, autosomal recessive; EH5, ExpansionHunter5; RE, repeat expansion; Het, heterozygous; Hom, homozygous; CABV, cerebellar ataxia and bilateral vestibulopathy; ANS, autonomic nervous system; CAUV, cerebellar ataxia and unilateral vestibulopathy.

  • aPreviously reported in Rafehi et al. (2023).

  • bLess than seven supporting reads.

  • cOnly one allele size is called at this locus.

  • dOn clinical diagnostic testing.

  • eRP-PCR showing an expanded allele.

  • Italicized sizing numbers are those not called as expanded (only applicable to Straglr).

This Article

  1. Published in Advance February 27, 2025, doi: 10.1101/gr.279634.124 Genome Res. 35: 769-785

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