Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos

Table 1 Details of TUBB8 variants identified in this study

Family no.	Age	Chromosome localization	Exon/ Intron	cDNA change	Protein change	Mutation zygosity	Inheritance	Known/ novel	Allele frequency		In silico bioinformatics prediction
Family no.	Age	Chromosome localization	Exon/ Intron	cDNA change	Protein change	Mutation zygosity	Inheritance	Known/ novel	gnomAD	gnomAD-EAS	PolyPhon-2	MutationTaster	SIFT	CADD
Family 1	29	Chr10:95169	Exon 1	c.10 A > C	p.I4L	Het	de novo/AD	Known	0.00000419	0	Benign	Disease-causing	Damaging	Tolerable
Family 2	34	chr10:95142	Exon 1	c.37G > A	p.G13R	Het	NA/AD	Novel	0.00001549	0	Probably-damaging	Disease-causing	Damaging	Damaging
Family 3	30	chr10:94786	Exon 2	c.124 C > G	p.L42V	Het	Father/AD	Known	0.0001	0.0012	Probably-damaging	Disease-causing	Damaging	Tolerable
Family 4	35	chr10:94761	Exon 2	c.149 A > G	p.Y50C	Het	Father/AD	Novel	ND	ND	Probably-damaging	Disease-causing	Damaging	Damaging
Family 5	26	chr10:93925	Exon 4	c.407 C > T	p.T136I	Het	NA/AD	Novel	ND	ND	Probably-damaging	Disease-causing	Damaging	Damaging
Family 6	31	chr10:93569	Exon 4	c.763G > A	p.V255M	Het	de novo/AD	Known	0.00002163	0	Probably-damaging	Disease-causing	Damaging	Damaging
Family 7	30	chr10:93539	Exon 4	c.793T > G	p.F265V	Het	NA/AR	Novel	ND	ND	Probably-damaging	Disease-causing	Damaging	Damaging
		chr10:93932	Exon 4	c.400 C > T	p.Q134*	Het	NA/AR	Known	0	0	NA	Disease-causing	NA	Damaging
Family 8	35	chr10:93287	Exon 4	c.1045G > A	p.V349I	Het	de novo/AD	Known	ND	ND	Probably-damaging	Disease-causing	Damaging	Tolerable
Family 9	29	chr10:93236	Exon 4	c.1096 A > G	p.T366A	Het	Father/AD	Novel	ND	ND	Probably-damaging	Disease-causing	Damaging	Tolerable

Het, heterozygous; AD, autosomal dominant; NA, not available; ND, not detected; AR, autosomal recessive

ISSN: 1757-2215