Table 1 Clinical findings and detected repeat expansions in families undergoing exome sequencing.
From: Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
STR disorder (Gene) | Family | Individual | Sex | Age at evaluation | Clinical findings | EH result | Validation method | Validation result |
|---|---|---|---|---|---|---|---|---|
DRPLA (ATN1) | F1 | Father | M | 52 | Ataxia with chorea | 22/62 | fragment analysis | 19/64 |
Proband | M | 14 | DD with regression, epilepsy | 21/48 | fragment analysis | 18/89 | ||
F2 | Father | M | 44 | Gait abnormality | 23/61 | fragment analysis | 20/61 | |
Proband | F | 10 | DD with regression, epilepsy | 21/60 | fragment analysis | 18/78 | ||
F3 | Father | M | 51 | Mild cognitive decline | 25/53 | fragment analysis | 22/58 | |
Proband | M | 15 | DD, epilepsy, microcephaly, ataxia, involuntary movement | 19/63 | fragment analysis | 16/70 | ||
SCA7 (ATXN7) | F4 | Mother | F | 55 | Cerebellar ataxia with foveal atrophy | 10/47 | fragment analysis; Nanopore | 10/41; 9/42 |
Proband | F | 29 | Cerebellar ataxia with foveal atrophy | 10/47 | fragment analysis; Nanopore | 10/41; 6/47 | ||
F5 | Father | M | 38 | Asymptomatic | 10/42 | fragment analysis | 10/42 | |
Proband | M | 6 | DD with regression, diffuse cerebellar atrophy | 10/36 | fragment analysis | 10/92 | ||
DM1 (DMPK) | F6 | Mother | F | 35 | Myotonia of tongue and grip | 13/62 | Southern blotting | 13/617 |
Proband | M | 5 | DD, hypotonia, elevated CK levels, myopia | 43/64 | Southern blotting | 5/1171 | ||
F7 | Father | M | 55 | Asymptomatic (pre-mutation) | 13/44 | fragment analysis | NA | |
Proband | M | 22 | Foot deformity, neck webbing, myopathic electromyography | 26/51 | fragment analysis | 26/57 |
