Table 1. Mutations in TGM1 gene in NBCIE patients.

Phenotype	Gene	Location	Variant	Zygosity	Reference
NBCIE	TGM1	Exon 3	p.Arg143Cys	Compound heterozygous	10
		Exon 4	p.Ser212Phe
NBCIE	TGM1	Exon 11	p.Tyr503Ter (Y503X)	Compound heterozygous	8
		Exon 13	p.Ser669Ter (S669X)
NBCIE-LI overlap	TGM1	Intron 5	IVS5-2A>G	Compound heterozygous	7
		Intron 7	IVS7+1G>T
Lamellar/NBCIE overlap	TGM1	Intron 5	IVS5-2A>G	Compound heterozygous	7
		Exon 3	p.Arg126His
Lamellar /NBCIE overlap	TGM1	Intron 2	IVS2-10delGTinsAGAGC ATGCTACAG;	Compound heterozygous	7
		Intron 5	IVS5-2A>G
Lamellar/NBCIE overlap	TGM1	Intron 5	IVS5-2A>G	Homozygous	7
Lamellar/NBCIE overlap	TGM1	Intron 14	IVS14-2A>G	Homozygous	7
NBCIE/lamellar overlap	TGM1	Exon7	c.1083delC, (p.Ile361Ilefs*23)	Homozygous	7
LI/NBCIE overlap	TGM1	Exon7	p.Gly375Asp	Homozygous	7
Lamellar/NBCIE overlap	TGM1	Exon3	p.Arg143Leu	Compound heterozygous	7
		Intron 7	IVS7-1G>A
Lamellar/NBCIE overlap	TGM1	Exon 6	p.Arg323Trp	Compound heterozygous	7
		Exon 10	p.Met487Arg
Lamellar/NBCIE overlap	TGM1	Exon4	p.Trp193*	Compound heterozygous	7
		Exon7	p.Val379Leu
NBCIE	TGM1 (NM_000359)	Exon 5	p.Arg264Trp	Compound heterozygous	Our patient
		Exon 13	p.Arg687His

NBCIE: non-bullous congenital ichthyosiform erythroderma, LI: lamellar ichthyosis.