TABLE 1.

Summary of reported GDF2 homozygous pathogenic variant cases and clinical findings.

Protein change	Nucleotide change	Clinical findings (age at diagnosis)	Family history	Reference
p.[Gln26Ter]; [Gln26Ter]	c.[76C>T]; [76C>T]	‐PAH (3 years) ‐facial spider‐like/linear telangiectases (10 years)	Parents: both heterozygous, asymptomatic	Wang et al., (2016), this study
p.[Arg151Ter]; [Arg151Ter] *	c.[451C>T];[451C>T]	‐NIHF ‐Lymphatic dysplasia (34 + 6 weeks gestation)	Parents: both heterozygous, no suspicious findings 1. Sibling, intra‐uterine death due to NIHF 2. Unaffected heterozygous siblings	Aukema et al., (2020)
p.[Glu279Ter]; [Glu279Ter]	c.[835G>T];[835G>T]	‐facial spider‐like/linear telangiectases (3 years) ‐PAVMs – diffuse, small (9 years	Parents: both heterozygous, no suspicious findings	This study
p.[Tyr354ArgfsTer15]; [Tyr354ArgfsTer15] a	c.[1060_1062delinsAG]; [1060_1062delinsAG]	‐Hypoxia (5 years) ‐PAVMs – diffuse, small (8 years) (Epistaxis – reported as every 2–5 months at age 8 years, had ceased by age 9 years)	Parents: both heterozygous, no suspicious findings 1. Homozygous sibling: 7 years, unaffected (Vascular lesion on forehead)	Liu et al., (2020)

This table summarizes the phenotypes of individuals homozygous for GDF2 pathogenic variants currently known. GenBank reference sequence = NM_016204.3.

Abbreviations: HHT, hereditary hemorrhagic telangiectasia; NIHF, nonimmune hydrops fetalis; PAH, pulmonary arterial hypertension; PAVM, pulmonary arteriovenous malformations.

^a BMP9 protein levels have not been measured.