Figure 2.

Pedigree of both families with GDF2 variants. Segregation analysis of GDF2 in all available family members. The figure shows a fragment of the GDF2 sequence with corresponding amino acids below. (A) Patient 1: It represents the homozygous missense variant at nucleotide position c.328 (c.328C > T) in exon 1 of GDF2 (NM_016204.3), which causes the amino acid substitution arginine to tryptophane at peptide position 110 (p.Arg110Trp) in the index patient. In addition, it shows the same heterozygous missense variant found in healthy parents and brother. (B) Patient 2: The missense variant at nucleotide position c.445 in exon 2 of GDF2 (NM_ 016204.4), which causes the amino acid substitution glutamine to lysine at peptide position 149 in the index patient and mother and the deletion inherited from her father. Double line denotes consanguinity. Legend: +/+ homozygous for the alternative allele; +/− heterozygous for the alternative allele; del: deletion.