Table 1

 Specific clinical features in index patient with KS, phenotypic features in KS in general and expression levels of C20orf133 in different mouse embryonic tissues and stages

Expression of C20orf133 in mouse embryological tissueMouse (human) developmental stagePhenotypic feature in index patient with KSPhenotypic feature in KS
In situqPCR
E, days post-coitum; NI, not investigated; qPCR, quantitative PCR.
+, low, but detectable, expression; ++, expression; +++, strong expression.
Brain: subventricular zone of striatum and olfactory lobe, cortical plate, cerebellar primordium and inferior colliculus of the tectumE12.5 (6 weeks): +++E18.5 (36 weeks): +++Mental retardation, neonatal hypotoniaMental retardation
E18.5 (36 weeks): +++Adult: +++
Teeth: mesenchymal components of the tooth-bud condensationsE14.5 (7 weeks): +++NIOligodontiaHypodontia, malocclusion, microdontia, small dental arches
Inner ear: cells lining the vestibulocochlear and cochlear ductE14.5 (7 weeks): +++NINo hearing lossHearing loss
Eye: cuboid epithelium of the lens and the inner nuclear layer of the retinaE16.5 (18–24 weeks): +++E18.5 (36 weeks): ++Hypermetropia bilateral astigmatism, alternating strabismus, blue sclerae, ptosisColobomata and cataracts
HeartE16.5 (18–24 weeks): +E18.5 (36 weeks): +No heart defectCongenital heart disease
Kidney: tanephric glomeruli of kidney. Urinary tract: bladderE14.5 (7 weeks): +++; E16.5 (18–24 weeks): +++ ; P0 (birth): +++E18.5 (36 weeks): +; adult: +; bladder; E18.5 (36 weeks): ++Vesico-uretral reflux grade II, ectopic small right kidney, habitual bladder disturbanceRenal malformations in 28% of patients with KS, possibly underdiagnosed