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. 2022 Nov 4;13:6664. doi: 10.1038/s41467-022-34349-8

Fig. 1. SLF2 and SMC5 variants cause severe microcephaly and short stature.

Fig. 1

a Table listing biallelic SLF2 and SMC5 variants in 11 individuals. ss, splice site created or destroyed by variant. ‘−’ denotes that the allele variant was not present in the gnomAD database. Scores predicting the pathogenicity of the identified missense variants in SLF2 and SMC5 were generated using Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/). NA Not applicable. b Length and head circumference (occipital frontal circumference; OFC) at birth and at the age of last exam as z-scores (s.d. from population mean for age and sex; SD). Dashed line at −3 SD indicates cut-off for normal population distribution. Orange values indicate SMC5 patients and blue values indicate SLF2 patients. c Schematic of full length WT SLF2 protein and SLF2 patient variants. APIM, atypical PCNA binding motif. SMC, SMC5/6 binding region. SLF1, SLF1 binding region. d Schematic of full length WT SMC5 protein and SMC5 patient variants. CC coiled-coil region.