Table 1.

Example of report for parental origin of de novo mutations showing base substitutions within a CpG dinucleotide

Disorder	Inheritance	Incidence	Gene	Chromosomes	Paternal age effect	Maternal age effect	Recurrent mutations	Mutation type	TS/TV	No. of pat. cases	No. of mat. cases	Reference
Apert	AD	1/160 000	FGFR2	10q26	Y	N	S252W (C→G)	P(MS)–CpG	TV	57	0	Moloney,D.M. et al. (1996) (6)
							P253R (C→G)
Achondroplasia	AD	1/10 000	FGFR3	4p16.3	Y	N	G380R (G→A)	P(MS)–CpG	TS, TV	40	0	Wilkin DJ (1998) (7)
							G380R (G→C)
Hutchinson–Gilford Progeria syndrome	AD		LMNA	1q21.2	Y	N	G608G (C→T)	P(MS)–CpG	TS	4	0	Eriksson M et al. (2003) (8)
Hutchinson–Gilford Progeria syndrome	AD		LMNA	1q21.2	Y	N	G608G (C→T)	P(MS)–CpG	TS	3	0	D'Apice MR et al. (2004) (9)
Muenke syndrome	AD	1/30 000	FGFR3	4p16.3	Y		c749C→G	P(MS)–CpG	TV	10	0	Rannan-Eliya SV et al. (2004) (10)
von Hippel-Lindau	AD	1/36 000	VHL	3p25–p26	N			P(MS)–CpG	TS	2	0	Richards FM et al. (1995) (11)
Rett syndrome	XD	1/10 000–1/15 000 females	MECP2	Xq28			R294X	P(MS)–CpG	TV	0	1	Girard M et al. (2001) (12)
Rett syndrome	XD	1/10,000-1/15,000 females	MECP2	Xq28			R294X	P(NS)–CpG	TS	4	0	Girard M et al. (2001) (12)
Rett syndrome	XD	1/10 000–1/15 000 females	MECP2	Xq28			R168X (C→T)	P(NS)–CpG	TS	2	1	Amir RE et al. (2000) (13)
							R270X (C→T)
Rett syndrome	XD	1/10 000–1/15 000 females	MECP2	Xq28	N			P(MS)–CpG	TS	7	1	Trappe R et al. (2001) (14)
Rett syndrome	XD	1/10 000–1/15 000 females	MECP2	Xq28	N		c502C→T c880C→T	P(NS)–CpG	TS	13	0	Trappe R et al. (2001) (14)
							R270X(C→T)
Hemophilia B	XR	1/30 000	FIX	Xq27.1–27.2	Y	Y		P–CpG	TS	6	3	Ketterling RP et al. (1999) (15)
Hemophilia B	XR	1/30 000	FIX	Xq27.1–27.2				P–CpG	TS	8	12	Green PM et al. (1999) (16)

AD, autosomal dominant; XD, X-linked dominant; XR, X-linked recessive; P, point mutation; MS, missense mutation; NS, nonsense mutation; CpG, mutation in a CpG dinucleotide; TS, transition mutation; TV, transversion mutation.