Figure 1.

Clinical variants in SRSF1 cause syndromic developmental disorder associated with intellectual disability

(A) Gene, transcript, and protein structure of SRSF1. Clinical variants were shown on the protein level. Evolutionary conservation of the RRM domains is shown with bold amino acids showing evolutionarily conserved residues. Missense variants are indicated by green arrows, nonsense variants are indicated in red, and frameshift variants in orange.

(B) Pedigrees of the 16 families reported in this cohort.

(C) Photographs of individuals with SRSF1 variants. Nonspecific facial features were observed in the individuals. Individuals 4 and 15 were referred for marfanoid features: they presented dolichostenomelia, arachnodactyly, and pectus deformity.