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Table 2 Summary of key clinical features in patients with DNM1L variants in different domains

From: A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

Clinical data

% (n/n) or n

GTPase domain

(n = 13)a

Middle domain

(n = 34)b

GTPase effector domain

(n = 3)

Total morbidity

% (n/N)

Age of onset (year)

0.25 (0–6)

2.4 (0–13)

1.5 (0.25–3)

 

Sex

    

 Male

46.2% (6/13)

52.9% (18/34)

33.3% (1/3)

50.0% (25/50)

 Female

53.8% (7/13)

47.1% (16/34)

66.7% (2/3)

50.0% (25/50)

Outcome

    

 Alive

76.9% (10/13)

52.9% (18/34)

66.7% (2/3)

60.0% (30/50)

 Died

23.1% (3/13)

47.1% (16/34)

33.3% (1/3)

40.0% (20/50)

Abnormal developmentc

   

74.0% (37/50)

 Developmental delay

61.5% (8/13)

70.6% (24/34)

33.3% (1/3)

66.0% (33/50)

 Developmental regression

0

17.6% (6/34)

33.3% (1/3)

14.0% (7/50)

Epilepsyd

   

68.0% (34/50)

 Generalized tonic-clonic seizures

23.1% (3/13)

26.5% (9/34)

0

24.0% (12/50)

 Super refractory status epilepticus

7.7% (1/13)

17.6% (6/34)

0

14.0% (7/50)

 Refractory status epilepticus

0

14.7% (5/34)

0

10.0% (5/50)

 Focal status epilepticus

0

26.5% (9/34)

0

18.0% (9/50)

Dystonia

38.5% (5/13)

32.4% (11/34)

0

32.0% (16/50)

Peripheral neuropathy

53.8% (7/13)

2.9% (1/34)

33.3% (1/3)

18.0% (9/50)

Microcephaly

15.4% (2/13)

20.6% (7/34)

0

18.0% (9/50)

Encephalopathy

15.4% (2/13)

17.6% (6/34)

33.3% (1/3)

18.0% (9/50)

Ataxia

46.2% (6/13)

5.9% (2/34)

0

16.0% (8/50)

Pain insensitivity

15.4% (2/13)

11.8% (4/34)

0

12.0% (6/50)

Dysarthria

38.5% (5/13)

2.9% (1/34)

0

12.0% (6/50)

Strabismus

15.4% (2/13)

5.9% (2/34)

33.3% (1/3)

10.0% (5/50)

Abnormal brain MRI

38.5% (5/13)

82.4% (28/34)

33.3% (1/3)

68.0% (34/50)

Abnormal EEG

15.4% (2/13)

58.8% (20/34)

0

44.0% (22/50)

Increased lactate level

46.2% (6/13)

47.1% (16/34)

0

42.0% (21/50)

De novovariants (N = 53)

72.7% (8/16)

91.2% (31/34)

100% (3/3)

79.2% (42/53)

  1. Data are shown as prevalence % (n/n) or n (number).
  2. aThe included patients were excluded from pedigrees 1, 2, and 14.
  3. bThe included patients contained patient 22, whose two variant sites were located in the middle and variable domain, respectively.
  4. cCount only once when two of the following phenotypes are present at the same time.
  5. dCount only once when two or more of the following phenotypes are present at the same time.
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BMC Pediatrics

ISSN: 1471-2431

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