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Table 1 Molecular and clinical characteristics of the subject with the occurrence of mutations in KIF7 and KIAA0556

From: Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

 Age (at last evaluation)7 years
Auxological parameter (at birth)
 Normal growthNormal
 Length (cm)51
 Weight (gr)3550
 OFC (cm)34
Auxological parameter (at last evaluation)
 Growth delayReduced height velocity 0.3 cm/year
 Height (cm)116.2
 Weight (gr)24,100
 OFC (cm)52.5
Genetic investigation
 CGH arrayNormal
 Whole Exome Sequencing analysisSee Supplementary data
 Variant in proband (state)c.2675G>A p.(Arg892His) (homozygous)c.3756_3757insC, p.(Arg1253Glnfs*5) (homozygous)
 Genome region (hg38)Chr15:89633184C>TChr16:27772854dupC
 Reference coding isoformNM_198525.2NM_015202.2
 Reference protein isoformNP_940927NP_056017
 rsID (dbSNP)rs143866575none
 Max AF (gnomAD)T = 0.00022none
 CADD score (PHRED)29.435
 Condition(s)Joubert syndrome 12, JBTS12 / Acrocallosal syndrome, ACLSJoubert syndrome 26, JBTS26
 ProteinKinesin-like protein, KIF7Katanin-interacting protein, KATNIP
 Basic functionCilium-associated proteinCiliary-base protein
 Murine modelKif7 knockout mouse model recapitulates major ACLS featuresKiaa0556 knockout mouse model possess a Joubert syndrome-associated brain-restricted phenotype