Table 1

Genotypes and phenotypes of French Canadian individuals with JBTS

GenotypesSrour et al12This study
 c.7957+288G>A; c.4690G>A(p.Ala1564Thr)++++
Age (years)81.5352454107133131262535105161494
Developmental delay++++++++++MildMild++++++++
Age at walkingWalks with aidNot ambNANA walks3Not amb83.572.51.51.541242.57Not ambNot ambNot amb
Oculomotor apraxia+++++++++++++++++++
Breathing abnormality+++++++++++++
Limb abnormality†++++
Retinal involvement‡−(f)−(e)−(e)−(h)−(h)−(f)−(e)−(e) −(f)−(h)−(e)−(e)−(f)−(e)−(e)−(e)−(e)−(f)−(f)+(f)+(e)
Renal involvement§−(us)−(us)−(us)−(h)−(h)−(us)− (us)−(us)−(us)−(h)−(us)−(h)−(h)−(h)−(us)−(us)−(h)−(us)−(us)+(us)+(us)
  • The nucleotide and amino acid positions for CC2D2A are based on reference sequence #NM_001080522.2, for TMEM231on reference sequence #NM_001077418.1, and for C5ORF42 on reference sequence #NM_023073.3 except for c.G4690A/p.A1564T that is based on ENSEMBLE transcript ID #ENST00000509849.

  • †IV-2 from family 406/301 has a 3–4 syndactyly in the left hand, II-1 from family 474 has pre- and postaxial polydactyly of the four limbs, and II-2 from family 387 and II-1 from family 483 have postaxial polydactyly and 4-5-6 syndactyly of the right foot.

  • ‡Retinal involvement was determined by electroretinogram (erg), fundoscopy (f) or history (h).

  • §Renal involvement was determined by renal ultrasound (us) or history (h). Individuals II-2 from family 387 and II-1 from family 483 have renal cysts with normal renal function.

  • MTS, Molar tooth sign; N, normal; NA, not available; Not amb, Not ambulatory.