Fig. 1: The proband and his family members, six of them present a SNAI2 mutation at c.230 C > G. | Translational Psychiatry

Fig. 1: The proband and his family members, six of them present a SNAI2 mutation at c.230 C > G.

From: Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome

Fig. 1

A The headshot and clinical images of the proband. The headshot on the top panel shows the impressive facial features of the proband. The left CT image on the bottom panel shows supernumerary teeth. The right MRI image on the bottom panel shows a conspicuous CSP (see the red arrow) between the two lateral ventricles in his brain. B Pedigree analysis of a six WS family members with SNAI2 mutations. Affected individuals are represented by filled symbols, with color coding indicating phenotypic severity: purple denotes WS-affected individuals presenting characteristic facies and dental abnormalities without ID, while red represents individuals exhibiting the complete phenotype including characteristic facies, dental abnormalities, and ID. Unaffected family members are indicated by empty symbols, and deceased individuals are denoted by slashed symbols. Individuals with undetermined WS status are marked with a question mark (?). Asterisks indicate family members selected for whole-exome sequencing analysis. C A missense substitution of c.230 C > G in SNAI2 of 8q11.21 in six members (II-1, II-3, III-1, III-4, III-5 and III-6) of this family. D Conservation analysis of SNAI2 protein sequence across species and structural characterization. The upper panel illustrates the evolutionary conservation of a SNAI2 domain among five vertebrate species: Human (Homo sapiens), Rhesus monkey (Macaca mulatta), Mouse (Mus musculus), Dog (Canis lupus familiaris), and Zebrafish (Danio rerio). Within the highlighted grey region, the amino acid residue at position 77 demonstrates species-specific variation: while human and other species maintain serine (Ser) at this position, mouse uniquely possesses threonine (Thr). The middle panel is a schematic representation of the SNAI2 protein with the S77C mutation indicated by a red dot. The bottom panel applied Swiss-Model to present the predicted structural model of the SNAI2 protein in which Ser77 is labeled.

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