Table 1.

Mutations of all known TTD patients with defects in TTDN1

			ALLELE 1 (maternal)		ALLELE 2 (paternal)
Patient	Photo-sensitive	Age/Sex	Genomic mutation	Protein change	Genomic mutation	Protein change	References
TTD5PV	No	8/F	Deletion of 11-31kb	No protein	Homozygous		Botta et al. 2007, Fois et al. 1988
TTD10RO	No	3/M	Deletion of at least 150 kb	No protein	Homozygous		Botta et al. 2007
TTD16PV	No	4/F	c.148_152delCACAC	p.His50Alafs*8	Homozygous		Botta et al. 2007
TTD31PV	No	3/F	c.148_152delCACAC	p.His50Alafs*8	c.277delT	p.Ser93Profs*60	Botta et al. 2007
TTD1MA	No	6/F	c.229delC	p.Arg77Glyfs*76	Homozygous		Botta et al. 2007
TTD11RO	No	3/F	c.277delT	p.Ser93Profs*60	Homozygous		Botta et al. 2007
Moroccan Siblings	No	16/M 4/F 13m/F	c.187_188delGG	57 residue truncated protein	Homozygous		Nakabayashi et al. 2005, Przedborski et al. 1990
Amish brittle-hair brain syndrome	No	20 Amish patients	c.480A>G	p.Met144Val	Homozygous		Nakabayashi et al. 2005, Jackson et al. 1974
TTD9PV	No	3/F	Partial deletion of exon 1 and entire exon 2	No protein (probable)	Homozygous		Nakabayashi et al. 2005, Rizzo et al. 1992
TTD402BE	No	14/M	c.2T>C (initiation codon)	No protein	c.2T>G (initiation codon)	No protein	This paper
TTD480BE	No	4/F	Deletion of ~120kb	No protein	c.227delG	p.Gly76Alafs*77	This paper
TTD487BE TTD488BE	No	2/F 1/M	c. 277delT	p.Ser93Profs*60	Deletion of ~92 kb	No protein	This paper
TTD343BE	Yes	14/M	4 bp insertion & deletion of ~5kb starting at c.279	No protein	Homozygous		This paper