Table 2

Pathological and genetic features of fetuses with CEP120 mutations

FamilyMKS-2930SW-476410
Affected individuals (sex)1 (M)*1(M)
Pregnancy termination23 gw27 gw
ConsanguinityYesNo
Country of originTurkeyBelgium
Nucleotide changec.2924T>G homc.451C>T/c.595G>C
Protein changep.Ile975Ser homp.Arg151*/ p.Ala199Pro
LOVD screening ID0005883400058835
LOVD individual ID00000587980000058799
Central nervous system
 Molar tooth signn.a.Yes
 Enlarged posterior fossaYesYes
 Occipital/suboccipital encephaloceleYesYes
 Dysplastic tectumn.a.Yes
Skeletal features
 Bell-shaped thorax with short ribsYesYes
 Rhizomelic limb shorteningYesYes (mild)
 PolydactylyPost-ax LH, pre-ax feetNo
 Other digital anomaliesBrachydactyly, clinodactyly, sandal gapNo
 Bowing of long bonesYesNo
Other organ involvement
 EyesMicrophthalmiaNo
 KidneysCystic kidneysNo
 Livern.a.No
 Oral-facialLobulated tongue, cleft palate, multiple lingual frenulaCleft palate
 OtherAmbiguous genitalia, anal atresiaNo
  • *This family previously had one spontaneous abortion at 6 gw and a stillborn baby showing encephalocele, microphthalmia, rhizomelic limb shortening and polydactyly. No autopsy was performed.

  • ax, axial; gw, gestational weeks; LH, left hand; LOVD, Leiden Open (source) Variation Database; MKS, Meckel syndrome; n.a., not available.