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. Author manuscript; available in PMC: 2021 Feb 22.
Published in final edited form as: Clin Genet. 2020 Aug 26;99(1):111–118. doi: 10.1111/cge.13829

TABLE 1.

Patients with DNAJC5 mutations for whom clinical information is available

Reference Patient ID/gender Family DNAJC5 mutation* Age of disease onset (years), first manifestation Age of death
Boehme et al8 IV-2/M c.346_348 del CTC 39, seizures 47
Boehme et al8 IV-3/M c.346_348 del CTC 32, seizures 43
Boehme et al8 IV-5/F c.346_348 del CTC 30, seizures NR
Boehme et al8 IV-7/F c.346_348 del CTC 32, hand weakness 39
Boehme et al8 IV-13/M c.346_348 del CTC 31, seizures NR
Boehme et al8 IV-15/F c.346_348 del CTC 33, difficulty speaking NR
Nijssen et al10 1/F c.344T>G 44, dementia and epilepsy NR
Nijssen et al10 2/F c.344T>G 46,myoclonus, epilepsy 59
Nijssen et al10 3/F c.344T>G 42, seizures 56
Nijssen et al10 4/M c.344T>G 36, myoclonus 56
Nijssen et al10 5/F c.344T>G 32, myoclonus NR
Nijssen et al10 6/M c.344T>G 25, myoclonus NR
Josephson et al11 II-1/M c.344T>G NR, seizures 43
Josephson et al11 III-2/M c.344T>G NR, seizures 58
Josephson et al11 III-4/M c.344T>G NR, seizures 57
Josephson et al11 IV-1/M c.344T>G 37, myoclonus 46
Josephson et al11 IV-2/F c.344T>G 35, seizures 45
Josephson et al11 V-3/F c.344T>G 32, abnormal EEG NR
Josephson et al11 V-4/F c.344T>G 40, seizures 53
Josephson et al11 V-5/F c.344T>G 36, seizures 41
Josephson et al11 VI-6/F c.344T>G 35, seizures NR
Josephson et al11 VI-7/M c.344T>G 37, seizures NR
Burneo et al12 B1/F c.346_348 del CTC NR, seizures 81
Burneo et al12 C1/F c.346_348 del CTC NR, seizures 48
Burneo et al12 C2/M c.346_348 del CTC NR, seizures 81
Burneo et al12 D1/F c.346_348 del CTC NR, seizures 39
Burneo et al12 E1/F c.346_348 del CTC 28, seizures 47
Burneo et al12 E3/M c.346_348 del CTC NR, seizures 49
Burneo et al12 E4/M c.346_348 del CTC 27, seizures 46
Burneo et al12 E5/F c.346_348 del CTC 29, seizures 47
Burneo et al12 E6/F c.346_348 del CTC 28, seizures NR
Burneo et al12 F1/M c.346_348 del CTC 22, seizures NR
Burneo et al12 F4/M c.346_348 del CTC 30, myoclonus NR
Velinov et al15 VI-2 c.346_348 del CTC 26, OCD, irritability 54
Velinov et al15 BD319 c.344T>G 30s, seizures 54
Jedličková et al17 Mother c.370_399 dup 42, NR 56
Jedličková et al17 Proband 1 c.370_399 dup 31, seizures, memory loss NR
Jedličková et al17 Proband 2 c.370_399 dup 34, seizures, memory loss NR
Not reported IBR1 c.346_348 del CTC 22, seizures NR
Not reported IBR2 c.346_348 del CTC 25, myoclonus NR
Not reported IBR3 c.346_348 del CTC 21, seizures NR
Jarrett et al18 III-2/F c.346_348 del CTC 36, seizures 55
Jarrett et al18 IV-2/F c.346_348 del CTC 31, memory loss and clumsiness NR
Jarrett et al18 IV-3/M c.346_348 del CTC 30, seizures NR
Jarrett et al18 IV-1/F c.346_348 del CTC 33, myoclonus NR
*

Note: Mutations identified in the patient or in a family relative.

Abbreviation: NR, not reported; OCD, Obsessive compulsive disorder.