Table 1

Recurrent variants and number of carriers in JS and non-JS cohorts

VariantPatients with JS (European+US cohorts)non-JS subjects (Italian controls+gnomAD)
TMEM216 c.218G>T†p.(Arg73Leu)0+42+111+44‡
TMEM237 c.52C>T§p.(Arg18*)2+01+16
MKS1 c.1408–34_1408-6del¶3+27+308**
MKS1 c.1476T>Gp.(Cys492Trp)8+111+141 parent of JS proband
KIAA0586 c.428delGp.(Arg143Lysfs*4)19+293+5163+7811 parent of JS proband†† + 2
KIAA0586 exons8-10 del‡‡early termination4+1n.a.n.a.
KIAA0586 c.863_864delAAp.(Gln288Argfs*7)3+30+8
KIAA0586 c.1006C>Tp.(Gln336)2+03+2
RPGRIP1L c.1843A>Cp.(Thr615Pro)2+42+01+17
CC2D2A c.4667A>Tp.(Asp1556Val)10+1617+51
TMEM67 c.755T>Cp.(Met252Thr)3+23+23
  • *Parents of JS probands included.

  • †Ashkenazi Jewish founder variant.

  • ‡Including 35 Ashkenazi Jewish.

  • §Hutterite founder variant.

  • ¶Finnish/Northern European founder variant.

  • **Including 161 Finnish.

  • ††Unaffected parent reported by Pauli et al.17

  • ‡‡Fequency not available (n.a.) for non-JS cohorts.

  • JS, Joubert syndrome.