Fig. 1
From: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Identification of OGDHL variants in 12 families and mapping of known variants. A Pedigrees and segregation data for the 12 families included in this study. Affected and unaffected individuals are indicated by filled and open squares (males) and circles (females), respectively, and a triangle represents a pregnancy. Affected individuals are indicated by black arrows. Double lines indicate consanguinity. Genetic diagnoses were made in 14 individuals. B The position of changed coding sequence in genomic DNA and the drawing of resulting variants. Seven previously uncharacterized variants described in this study are marked in bold blue. C Seven out of eight missense variants from our studies are highly conserved across species