Fig. 1

Pedigree and segregation of the S1PR2 c.323G>A variant in family E30. a A five generation family with four affected individuals with HL and seven unaffected family members was subjected to segregation testing. The wild type allele is marked in blue, the variant in red. The segregation results are shown below each individual who was tested. Parental consanguinity is noted for V-2, as well as V-4 and V-5. Affected individuals with HL are colored in black and unaffected individuals are colorless. An individual with epilepsy is marked with a checkered pattern (III-14) and an individual with polydactyly is indicated with a striped pattern (IV-7). b Sanger sequence chromatograms of the S1PR2 c.323G>A pathogenic variant in homozygous (left) and heterozygous (center) orientations. An illustrative WT Sanger sequence chromatogram is also included (right). The reference sequence is shown at the bottom, whereas the individual nucleotide sequence is shown at the top. A blue arrow indicates the c.323 position