Table 2.
Characteristics of individuals with homozygous DNAJC3 mutations.
| Patient | Present Study | Synofzik et al. (22) | Bublitz et al. (24) | Ozon et al. (23) | Lytrivi et al. (24) | ||||
|---|---|---|---|---|---|---|---|---|---|
| a | b | ||||||||
| DNAJC3 variant | c.1177C>T (p.R393X) | c.580C>T (p.Arg194*) | Deletion of exons 6–12(p.)? | c.580C>T, (p.Arg194) | (c.393+2T>G,NM_006260.4) | (c.393+2T,C, NM_006260.4) | (c.1036C>T, p.R346*) Compound Het | (c.1177C>T, p.R393*) | |
| Consanguinity | + | – | + | – | + | + | – | + | |
| Ethnicity | Middle Eastern | Turkish | Turkish | Turkish | Presumed Turkish | Presumed Turkish | Armenian | Algerian | |
| Number of members affected | 2 | 3 | 2 | 1 | 1 | 1 | 1 | 1 | |
| Sex | Male | Male | Male (a, b): 2 | Female (a, b) | Female | Male | Female | Female | Male |
| Female (c): 1 | |||||||||
| Final adult height, cm (Z-score) | 143 (−4.7) | 147 (−4.1) | a: 152 (−3.44) | a: 136 (−4.18) | 149 (−2.20) | NA* | NA* | 143 (−3) | 150.5 (−4) |
| b: 156 (−2.89) | b: 143 (−3.12) | ||||||||
| c: 145 (−2.81) | |||||||||
| Short stature | + | + | + in 2/3 | + | + | + | + | + | + |
| Adult weight, kg (Z-score) | 31.4 (7.44) | 51 (−2.35) | a: 45 (−3.45) | a: 39 (−3.31) | 42 (−2.53) | NA* | NA* | 43 | 36 |
| b: 49 (−2.69) | b: 39 (−3.31) | ||||||||
| c: 38 (−3.60) | |||||||||
| BMI in kg/m2 (Z-score) | 17.49 (−2.65) | 23.60 (0.18) | a: 19.50 (−1.44) | a: 21.10 (−0.19) | 18.90 (−1.07) | 17.10 (1.00) | 17.40 (0.48) | 21.0 (−3.6) | 15.9 (−5.6) |
| b: 20.10 (−1.15) | b: 19.10 (−0.98) | ||||||||
| c: 18.10 (−1.49) | |||||||||
| Hypothyroidism | + | + | + in 2/3 | NA | + | + | + | + | + |
| Hypoacusis | + | + | + | + in 1/2 | + | + | + | + | + |
| Age during onset of hypoacusis, years | 6 | 8.5 | a: 6 | a: 2 | 7 | 6.5 | 5 | 6 | NA |
| b: 14 | b: NA | ||||||||
| c: 27 | |||||||||
| Cognitive deficits | + | + | + | NA | + | + | + | – | NA |
| Ataxia | + | + | + | + | + | + | + | + | NA |
| Age during onset of ataxia, years | 9 | NA | a: 6 | a: 2 | 15 | 15.5 | 3 | Neonate | NA |
| b: 19 | b: 11 | ||||||||
| c: 34 | |||||||||
| Sensorimotor neuropathy | + | – | + | + | + | + | + | + | NA |
| DM | + | + | + | + | + | + | + | + | + |
| Age during onset of DM, years | 11 | 14 | a: 18 | a: 14 | 19 | 15.5 | 13.8 | 12 | 16 |
| b: 15 | b: 11 | ||||||||
| c: 18 | |||||||||
| Abnormal brain and spine MRI findings | + | – | + | + | + | + | + | + | NA |
| Abnormal pancreas MRI findings | + | + | NA | NA | NA | NA | NA | NA | NA |
*Final adult height and weight was not achieved at date of publication.
BMI, body mass index; DM, diabetes mellitus; NA, not available
Z-scores and SDS are based on Centers for Disease Control and Prevention growth charts 2000 (38).