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. 2021 Sep 28;108(10):2017–2023. doi: 10.1016/j.ajhg.2021.09.005

Figure 1.

Figure 1

Pedigree and summary of ABHD16A variants

(A) Pedigree of the six families with variants in ABHD16A, showing consanguinity in three families. Black symbols represent affected individuals. Symbols containing a dot represent a heterozygous carrier status confirmed in an adult. Unaffected siblings were all confirmed to not be homozygous for the variant present in the family.

(B) Schematic of phosphatidylserine (PS) lipase and lysophosphatidylserine (lyso-PS) lipase activities by ABHD16A and ABHD12.

(C) Representation of the six variants in ABHD16A (GenBank: NM_021160.2) present in the 11 affected individuals. This transcript encodes a protein that is 558 amino acids in length.