Table 2

Phenotype of Joubert syndrome related disorder (JSRD) subjects with MKS3 and RPGRIP1L mutations lacking clinically apparent liver disease

PedigreeMutationsAmino acidAge/sexCNSLiverColRDRenalOther
MKS3
UW85-1c.245C>Gp.P82R26y/MMTS+RTransient ELE (valproate)
c.755T>Cp.M252T
UW85-2c.245C>Gp.P82R22y/MMTS+RPtosis
c.755T>Cp.M252T
UW85-3c.245C>Gp.P82R19y/MMTS+R
c.755T>Cp.M252T
UW86c.579_80delAGp.T193Tfs14X2y/FMTS
c. 244C>Tp.P82S
RPGRIP1L
UW04-4*c.2413C>Tp.R805X16y/MMTSEKAB, ptosis
c.1975T>Cp.S659PBx(7y):NPH
Tx(7y)
  • See table 1 for key to abbreviations.

  • All UW subjects had developmental delay/mental retardation, hypotonia and/or ataxia, oculomotor apraxia.

  • Age refers to age at last contact in years (y), months (m) or weeks gestation (w).

  • Laterality of manifestations is stated as either; R, right; L, left; or bilateral unless otherwise stated.

  • Outcome details are italicised and appear in the lower portion of the cell.

  • * Brother with liver disease is listed in table 1.