Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction

Table 1 Details of the homozygous loci on chromosome 2 of fetus 1

Gene	Location	Variant	Zygosity			Pathogenicity prediction				GnomAD (MAF %)
Gene	Location	Variant	Fetus	Father	Mother	SIFT	Poly-Phen	Clin-Pred	Mutation Taster	GnomAD (MAF %)
TTN	chr2:179,577,553	c.27199G > A(p.Val9067Met)	Hom	Het	Wild	Tol	Beni	Tol	Poly	SA: 0.009808
										Lat: 0.002892
IFT172	chr2:27,683,894	c.2509G > A(p.Ala837Thr)	Hom	Het	Wild	Del	Prob dam	Del	Dis Caus	EA: 0.005437
										SA: 0.003266

Hom Homozygous, Het Heterozygous, Wild: Wild-type, Del deleterious, Tol tolerated, Prob dam probably damaging, Poss dam possibly damaging, beni benign, Dis Caus disease causing, Poly polymorphism, Neu neutral
Higher GERP scores are more deleterious
The gnomAD MAF: NFE non-Finnish European, Lat Latin, Afr African, EA East Asian; Fin Finish, SA South Asian

ISSN: 1755-8166