Figure 1 | European Journal of Human Genetics

Figure 1

From: Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Figure 1

Pedigrees and genetic data for six families harbouring rare biallelic variants in genes encoding components of the GPI-anchor biogenesis pathway. The Sanger sequencing traces shown are for the proband in each family and are shown in the coding direction, alongside the corresponding wild-type amino acid sequence. In the case of PIGT family 2 we show a trace from the father, where the variant is in the heterozygous state. For PIGT family 1 and the PIGL family, DNA was not available for the unaffected older siblings. Codon numbering is with respect to the following GenBank transcripts; PGAP3: NM_033419.4; PIGN: NM_176787.4; PIGT: NM_015937.5; PIGO: NM_032634.3; PIGL: NM_004278.3.

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