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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

SubjectOPBG_13–16
 EthnicityCaucasian
 SexM
 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
 Karyotype46,XY
 CGH arrayNormal
 Whole Exome Sequencing analysisSee Supplementary data
Gene/esKIF7KIAA0556
 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
 MIM#ID209900616784
 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
(References)[14][15]