Fig. 1 | Genetics in Medicine

Fig. 1

From: CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Fig. 1The alternative text for this image may have been generated using AI.

Variants identified inCTCF. a Schematic drawing of the CTCF gene with known and novel variants. Noncoding exons are displayed in light gray, coding exons in medium gray, and exons encoding zinc fingers in dark gray. b Schematic drawing of the CTCF protein. Missense or in-frame variants are displayed above and likely gene-disruptive variants below the scheme. Nonbold variants and p.(Arg567Trp) were published previously with or *without clinical details.7,8,9, 11,12,13 Underlined variants are recurrent. All identified pathogenic or likely pathogenic in-frame or missense variants affect one of the 11 zinc finger domains.

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