Fig. 2

Novel compound heterozygous missense variants in the MTMR5/SBF1 patient. a Familial pedigree and Sanger sequencing data for the MTMR5/SBF1 patient and her parents demonstrating recessive inheritance of compound heterozygous c.2291G > A (p.R763H) and c.3194G > A (p.G1064E) mutations of MTMR5/SBF1 (the nomenclature of variant refers to NM_001365819.1). The arrows indicate the variant sites. b Predictions of the pathogenic effects of both variants as analyzed using the following prediction tools: SIFT [27]; PolyPhen-2 [28]; dbSNP [29]; NHLBI ESP [30]; GnomAD v3.1 at http://genome.ucsc.edu