Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens

Hu, Haishan; Zhou, Qing; Ma, Yanlin; Zhang, Lingxiao

doi:10.1186/s12610-024-00233-2

Basic and Clinical Andrology

Table 2 Genetic variants were detected in the 42 CBAVD patients

From: Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens

Patient	Gene	Zygosity	ACMG class	DNA change	Protein change	Mutation type	Exon/Intron
P1	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P2	CFTR	Homozygous	P	C.1210-12T [5]		Splicing	Intron9
P3	CFTR	Homozygous	P	C.1210-12T [5]/c.1210-34TG		Splicing	Intron9
P4	CFTR	Homozygous	P	C.1210-12T[5]		Splicing	Intron9
P5	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
	CFTR	Heterozygous	P	C.2125C >T		Nonsense	Exon14
P6	CFTR	Homozygous	P	C.1210-12T[5]		Splicing	Intron9
P7	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P8	CFTR	Heterozygous	LP	c.1210-11T > G		Splicing	Intron9
P9	CFTR	Homozygous	P	C.1210-12T[5]		Splicing	Intron9
P10	CFTR	Heterozygous	P	C.1210-12T[5]/c.1210-34TG		Splicing	Intron9
P11	CFTR	Heterozygous	P	c.2909G > A	p.Gly970Asp	Missense	Exon18
P12	CFTR	Heterozygous	P	C.1210-12T[5]/c.1210-34TG		Splicing	Intron9
		Heterozygous	P	c.3068 T > G	p.lle1023Arg	Missense	Exon19
P13	CFTR	Heterozygous	VUS	c.2042A > T	p.Glu681Val	Missense	Exon 14
P14	CFTR	Heterozygous	P	c.2909G > A	p.Gly970Asp	Missense	Exon18
P15	CFTR	Heterozygous	LP	c.1407G > T	p.Met469Ile	Missense	Exon 11
P16	CFTR	Heterozygous	LP	c.4262 T > A	p.Met469Ile	Missense	Intron 27
P17	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P18	CFTR	Homozygous	p	C.1210-12T[5]		Splicing	Intron9
P19	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
		Heterozygous	P	C.2909G > A	p.Gly970Asp	Missense	Exon18
P20	CFTR	Heterozygous	LP	c.4056G > C	p.Q1352H	Missense	Exon14
		Heterozygous	VUS	c.1210-11 T > G		Splicing	Intron9
P21	CFTR	Heterozygous	VUS	c.2042A > T	p.Glu681Val	Missense	Exon 14
P22	CFTR	Heterozygous	P	c.350G > A	p.Arg117His	Missense	Exon7
		Heterozygous	LP	c.4056G > C	p.Gln1352His	Missense	Exon25
P23	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P24	CFTR	Heterozygous	VUS	c.1210-11T > G		Splicing	Intron9
P25	CFTR	Heterozygous	P	C.1210-12T[5]/c.1210-34TG		Splicing	Intron9
P26	CFTR	Heterozygous	LP	c.4056G > C	p.Gln1352His	Missense	Exon25
		Heterozygous	VUS	c.601G > A	p.Val201Met	Missense	Exon6
P27	CFTR	Heterozygous	VUS	c.1666A > G	p.lle556Val	Missense	Exon12
P28	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P29	CFTR	Homozygous	P	C.1210-12T[5]		Splicing	Intron9
P30	CFTR	Heterozygous	P	C.1210-12T[5]		Splicing	Intron9
P31	ADGRG2	Semizygote	VUS	c.473G > A	p.Arg158His	Missense	Exon12

Genetic Variants in CBAVD Patients: Whole exome sequencing of 42 CBAVD patients revealed that 30 patients had CFTR mutations and one patient had an ADGRG2 mutation. The table categorizes patients (P1-P31) based on the detected gene mutations, their zygosity, ACMG classification, DNA changes, protein changes, mutation types, and the affected exon or intron. CFTR Cystic fibrosis transmembrane conductance regulator, ADGRG2 Adhesion G protein-coupled receptor G2, P Pathogenic, LP, Likely pathogenic mutations, VUS Variants of uncertain significance

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ISSN: 2051-4190

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