Figure 1.

Pictures and family pedigrees of the probands. (A) Pictures of Proband 1 at 4 months of age (left) and at close to 9 years of age (right). (B) pedigree of the family of the proband affected by a novel nonsense homozygous pathogenic variant (p.Gln144*) in exon 3 of the AGPAT2 gene. (C) Pictures of the proband number 2 and particular of the enlarged hands and feet. (D) pedigree of the family of the proband affected by a novel nonsense homozygous variant (Arg159Cys) in exon 3 of the AGPAT2 gene; parents of the index case were second degree cousins (I-2 and I-4 were first degree cousins). The probands are indicated with the arrow, circles indicate male subjects, squares female subjects. Roman numbers specify the different generations while Arabic numbers identify different subjects. Double horizontal line indicate consanguinity. M, mutant allele; N, normal allele. Filled symbol indicate the presence of the disease, crossed symbols indicate deceased individuals.