Table 2 Frequency of major clinical features in patients with recessive KIF7 or C5orf42 variants from the literature and this study

From: Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Clinical feature

KIF7-positive ACLS/ JBTS

C5orf42-positive JBTS/ OFDVI

(Relative) Macrocephaly

28/34 (82%)

5/5 (100%)

Prominent/broad forehead

34/38 (89%)

9/9 (100%)

Hypertelorism

34/37 (92%)

7/8 (88%)

Depressed/wide nasal bridge

33/34 (97%)

6/6 (100%)

Polydactyly

26/41 (63%)

37/71 (52%)

Abnormal corpus callosum

38/40 (95%)

6/13 (46%)

MTS/VH

18/32 (56%)

77/77 (100%)

Developmental delay/ID

40/41 (98%)

36/36 (100%)

Seizure

7/18 (39%)

2/19 (11%)

Ocular motor apraxia

0/9 (0%)

27/38 (71%)

Nystagmus/strabismus

9/18 (50%)

13/21 (62%)

JBTS breathing abnormalities

1/10 (10%)

14/28 (50%)

  1. ACLS acrocallosal syndrome, JBTS Joubert syndrome, OFDVI oral-facial-digital syndrome type VI
  2. MTS molar tooth sign, VH vermis hypoplasia, ID intellectual disability
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