Table 1.

Detailed description of sperm donations.

DM1 patient	Age	CTG copiesa	Sperm total motile count (TMC)	Sperm quality (volume, sperm count/ml, motility, morphology)	Fertilization rate by ICSI	Average levels of methylation in sperm	DM1 hESC lines (CTG copies)b
A	35	N/A	2 × 103–5 × 102	Severe OTA (3 ml, <1 × 106, 10%, 2%)	63–67%	13%	SZ-DM1 (1000) SZ-DM2 (430, 500, 1000) SZ-DM6 (1060) SZ-DM11 (500) SZ-DM12 (630) SZ-DM20 (300)
E	37	700	18.8 × 106	OTAd (5 ml, 3 × 106, 30%, 2%)	92–100%	2%	SZ-DM7 (300)
I	28	1000	16 × 106	Teratoospermia (2 ml, 80 × 106, 66%, 1%)	61%	30%	–
D	31	~300c	200 × 106	Normospermia (5 ml, 24 × 106, 50%, 10%)	100%	2.5%	SZ-DM5 (300)

N/A data not available.

^aCTG copy number was determined in blood samples of all patients and human embryonic stem cell (hESC) lines by fragment length analysis of restriction digested genomic DNA resolved by agarose gel electrophoresis and detected by Southern blot hybridization with a DIG-labeled probe, excluding patient A, who was diagnosed by linkage analysis. The estimated allele lengths (determined by the modal allele length from the dense part of the smear) are confounded by the age-dependent and expansion-biased nature of somatic mosaicism and thus may not reflect the inherited allele length.

^bDM1 affected embryos were obtained in all patients during PGD procedures.

^cRepeat length of patient D was determined by PCR analysis as described in ref. [20].

^dOligoasthenoteratozoospermia.