CEP120 transcript: NM_153223.3.
JATD, Jeune asphyxiating thoracic dystrophy; JBTS, Joubert syndrome;
MKS, Meckel syndrome; OFD, oro-facial-digital syndrome; TCDOE,
tectocerebellar dysraphia with occipital encephalocele.
(1) Designated as n/a, unless renal phenotype clearly stated.
(2) For this patient Roosing et al., (Roosing et al., 2016) reported:
grade II-III hydronephrosis was detected at birth but it spontaneously
resolved after few months. No renal problems have been reported since
then.
(3) A fourth JATD case was described (Shaheen et al., 2015), however DNA
from the proband was not available. Both parents presented theCEP120 : p.Ala199Pro variant in heterozygosis.
Table 2: Patients with truncating CC2D2A variants in potentially
skippable exons and associated phenotypes