Table 4

Genotype of SASD patients

Patient		Allele		Mutation		Nucleotide change		Position (cDNA)*	Exon			Parental origin
Genbank accession number for cDNA: NM_012434.3, numbering from the A of the initiation codon; †patient previously studied by Aula et al.²⁴ ND, not determined (no samples available). Novel mutations are indicated in bold*.
1		1		p.W339X		G→A		1016		8		ND
		2		p.W339X		G→A		1016		8		ND
2		1		c.533delC		delC		533		4		Mother
		2		p.SSLRN268-272del		del 15 bp		802–816		6		Father
3		1		c.1259+1G→A		G→A		1259+1	intron 9			Father
		2		del ⩾exon 9								Mother
4 †		1		c.527delG		delG		527		4		ND
		2		p.Y306X		T→G		918		7		ND
5		1		c.1350+1G→T		G→T		1350+1	intron 10			Father
		2		c.1350+1G→T		G→T		1350+1	intron 10			Mother
6		1		p.G127E		G→A		380		2		ND
		2		p.SSLRN268-272del		del 15 bp		802–816		6		ND
7		1		p.R57C		C→T		169		2		Mother
		2		del exon 7								Father
8		1		c.1138delGT		delGT		1138		9		Father
		2		c.1138delGT		delGT		1138		9		Mother
9		1		p.Y306X		T→G		918		7		ND
		2		p.Y306X		T→G		918		7		ND
10		1		del ex 10–11								ND
		2		del ex 10–11								ND
11		1		p.Y306X		T→G		918		7		Father
		2		c.1296delT		delT		1296		10		Mother
12		1		p.W339X		G→A		1016		8		ND
		2		p.W339X		G→A		1016		8		ND