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Fig. 1 | BMC Pediatrics

Fig. 1

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

Fig. 1

a Family tree of the subject with co-occurring mutations in KIAA0556 and KIF7; b, c Proband’s photos at 7 years; d, e MRI shows hypoplasia of cerebellar vermis, molar tooth sign (assial, view), and dysgenesis of the corpus callosum (sagittal view); f Domain structure of human KIAA0556 (KATNIP) (1618 amino acid residues) and KIF7 (1343 amino acid residues) proteins. The location of the truncating disease-causing variant in KATNIP, and missense change in KIF7 identified is displayed (bold and underlined). Functional domains of KATNIP and KIF7 are also shown. (Abbreviations: Gli-BD, Gli-binding domain; NPHP1-ID, Nephoronophthisis-1-interacting domain; SMC, Structural Maintenance of Chromosomes; g Sanger sequencing confirmation of mutations (KIAA0556, left panel; KIF7, right panel) in proband and his parents. Red asterisk (*) indicates the nucleotide changes; h Partial amino acid sequence alignment of the KIF7 SMC domain (NP_940927.2; XP_003314912.2; XP_001094468.1; XP_545852.3; XP_002696621.1 NP_034756.2; 218,828.5; XP_004943897.1; NP_001014816.1). Arginine 892 is highly conserved among vertebrates. Black asterisk (*) indicates phosphorylatable sites, Ser895 and Ser898

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