FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

BMC Research Notes

Table 1 Mutations in the FATP4 gene identified in probands from five IPS families.

Patient family ID	Exon	Nucleotide change	Amino-acid change	Zygosity	Origin
IR85	exon3 exon7	c.504c>a c.899a > g	p.C168X* p.Q300R*	compound heterozygous	Norway
IR125	exon2 exon3	c.103g>t c.504c > a	p.G35X p.C168X*	compound heterozygous	Norway
25187	exon3 exon10	c.504c>a c.1430t > a	p.C168X* p.V477D	compound heterozygous	Norway
25291	exon3	c.504c > a	p.C168X*	homozygous	Iceland
DA1	exon3 exon11	c.504c>a c.1511 g > a	p.C168X* p.R504H	compound heterozygous	Denmark

Family origin and zygosity of the identified mutations. The nucleotide and amino-acid change is indicated and the corresponding exon. *denotes previously published in Klar et al 2009.

ISSN: 1756-0500