Table 1 Molecular and clinical characteristics of the subject with the occurrence of mutations in KIF7 and KIAA0556
Subject | OPBG_13–16 | |
Ethnicity | Caucasian | |
Sex | M | |
Age (at last evaluation) | 7 years | |
Auxological parameter (at birth) | ||
Normal growth | Normal | |
Length (cm) | 51 | |
Weight (gr) | 3550 | |
OFC (cm) | 34 | |
Auxological parameter (at last evaluation) | ||
Growth delay | Reduced height velocity 0.3 cm/year | |
Height (cm) | 116.2 | |
Weight (gr) | 24,100 | |
OFC (cm) | 52.5 | |
Genetic investigation | ||
Karyotype | 46,XY | |
CGH array | Normal | |
Whole Exome Sequencing analysis | ||
Gene/es | KIF7 | KIAA0556 |
Variant in proband (state) | c.2675G>A p.(Arg892His) (homozygous) | c.3756_3757insC, p.(Arg1253Glnfs*5) (homozygous) |
Genome region (hg38) | Chr15:89633184C>T | Chr16:27772854dupC |
Reference coding isoform | NM_198525.2 | NM_015202.2 |
Reference protein isoform | NP_940927 | NP_056017 |
rsID (dbSNP) | rs143866575 | none |
Max AF (gnomAD) | T = 0.00022 | none |
CADD score (PHRED) | 29.4 | 35 |
MIM#ID | 209900 | 616784 |
Condition(s) | Joubert syndrome 12, JBTS12 / Acrocallosal syndrome, ACLS | Joubert syndrome 26, JBTS26 |
Protein | Kinesin-like protein, KIF7 | Katanin-interacting protein, KATNIP |
Basic function | Cilium-associated protein | Ciliary-base protein |
Murine model | Kif7 knockout mouse model recapitulates major ACLS features | Kiaa0556 knockout mouse model possess a Joubert syndrome-associated brain-restricted phenotype |
(References) | [14] | [15] |