Table 1.

Processed PGT cases description

PGD case	Disease	Gene	Type of inheritance	Mutation(s) assessed	Female partner age	Male partner age	Family members analyzed to establish linkage
HTT-case	Huntington disease (HD)	HTT	AD	CAG repeat expansion	34	29	Carrier female partner, her affected father and healthy mother, healthy male partner
ACTA2-case	Familial thoracic aortic aneurysm and dissection	ACTA2	AD	c.635G>A	32	32	Affected male partner, his affected mother and brother, healthy father, healthy female partner
KRT14-case	Epidermolysis bullosa simplex	KRT14	AD	c.374G>A	30	31	Affected male partner, healthy female partner, their affected child
TPP1-case	Classic late infantile neuronal ceroid lipofuscinosis	TPP1	AR	c.622C>T	38	37	Carrier female and male partners, their affected child
ALOX12B-case	Nonbullous congenital ichthyosiform erythroderma (NBCIE)	ALOX12B	AR	c.883G>C; c.1790C>A	35	32	Carrier female and male partners, their affected child
DMD-case 1	Duchenne muscular dystrophy (family 1)	DMD	X-linked	Duplication of exons 45–47 and 51–52	39	35	Carrier female partner, healthy male partner, their affected son and carrier daughter
DMD-case 2	Duchenne muscular dystrophy (family 2)	DMD	X-linked	c.6420del	33	31	Carrier female partner, her affected and healthy brothers, healthy male partner
MTM1-case	Myotubular myopathy	MTM1	X-linked	c.70C>T	34	35	Carrier female partner, her healthy sister, her carrier mother and healthy father, healthy male partner, their affected child
GLB1-case	GM1 gangliosidosis	GLB1	AR	c.1768C>T; c.833delG	36	38	Carrier female and male partners, their affected child
				Average	34.4 ± 2.8	32.8 ± 2.5