Table 1

Clinical, neuroimaging and genetic features of children with JS having CEP120 mutations

Affected individuals (sex)1 (F)1 (M)1 (M)1 (F)
Age at last examination4 years+7 months11 years2 years+1 month2 years
Country of originItalyUSAPalestineIndia
Nucleotide changec.581T>C homc.2177T>C/c.2134C>Tc.(49+5_49+10del; 49+5_49+ 10delins477) homc.1138_1139insA/c.1646C>T
Protein changep.Val194Ala homp. Leu726Pro/p.Leu712Phep.(Gly+1Aspfs*14;?)p.Ser380Thrfs*19/p.Ala549Val
LOVD screening ID00058830000588310005883200058833
LOVD individual ID0000058794000005879300000587960000058797
Neurological signs
 Developmental delay/cognitive impairmentYesYesYesYes
 Abnormal breathingNoYesNoYes
 Abnormal ocular movementsNoOMA, nystagmus, Duane syndromeNoStrabismus
 Truncal ataxiaYesNoYesNo
Other organ involvement
 Molar tooth signYesYesYesYes
 OtherMild ventriculomegalyCC hypoplasiaNoNo
  • *Grade II-III hydronephrosis was detected at birth but it spontaneously resolved after few months. No renal problems have been reported since then.

  • CC, corpus callosum; F, female; JS, Joubert syndrome; LOVD, Leiden Open (source) Variation Database; M, male; OMA, ocular motor apraxia.