Fig. 2 | Journal of Human Genetics

Fig. 2

From: Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

Fig. 2The alternative text for this image may have been generated using AI.

CHARGE-like syndrome phenotypes and genome variation of the patient. The photographs (a, b) show facial asymmetry, microtia with preauricular tags, cleft lip and palate, narrow forehead, laterally displaced hair whorl, arched eyebrows, epicanthal folds, short palpebral fissures, long eyelashes, low nasal ridge, smooth philtrum, webbed and broad neck, and upsweeping of the posterior nuchal hair line. c CDK9-related characteristic features of joint contracture, absence of finger flexion creases, and cutaneous syndactyly are seen. d The pedigree of a family with CDK9 variants. The genotypes of proband (II-2) and parents (I-1 and I-2) are shown. The nucleotide numbering reflects cDNA numbering with +1 corresponding to A of the ATG translation initiation codon in the reference sequence NM_001261.3, according to the nomenclature recommended by the Human Genome Variation Society (http://varnomen.hgvs.org/). The initiation codon was designated as codon 1. The proband is indicated by the arrow. Square, male; circle, female; black, disease affected; asterisk, no available DNA sample. e In vitro kinase assay of human CDK9. The graph shows the enzymatic activity rates of Flag-tagged CDK9 (Flag-CDK9) wild type (WT), R225C, A288T, and R303C. The error bars indicate the standard deviations of the mean. *p < 0.05, **p < 0.01 using a t-test. The amounts of Flag-CDK9 proteins were confirmed by immunoblotting with anti-Flag antibodies (bottom panel)

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