Table 1. TGM1 mutations associated with LI, found in this study.

Patienta	Mutation	Type	Exon (E) intron(I)	Nucleotides substitution	Amino-acid substitution	Collodion baby	LI	CIE	Scale features, other	Ref.
1	G473S	HOMO	10	GGC→AGC	Gly473Ser	Yes		Yes	Small, thin, whitish atopic dermatitis	45
2	R54X	HOMO	2	CGA→TGA	STOP codon	Yes	Yes		Large, thick, grey to brown, adherent, ectropion, severe phenotype	49
3	W263X	HOMO	5	TGG→TAG	STOP codon	Yes	Yes		Large, thick, dark, adherent	NEW
4	R142H	HOMO	3	CGC→CAC	Arg142His	Yes	Yes		Large, adherent, yellow-brownish ectropion	26
5	S272P	HOMO	5	TCT→CCT	Ser272Pro	Not known	Yes		Large, thick, dark brown, adherent, ectropion, alopecia	47
6	c.851_877del not found	HETERO	I 5	-	STOP codon	Yes		Yes	Small, whitish to light brown	NEW
7	V383M splicing error	HOMO HOMO	7 I5/E6	GAG→ATG AG→GG	Val382Met Insertion of intron 5	Yes	Yes		large, thin, brownish, adherent affecting the head, nape, back, hands and feet, mild phenotype.	26, 48
8	E520G; splicing error	HOMO HOMO	11 13	GAG→GGG G→A	Glu520Gly STOP codon	Yes	Yes		Large, adherent, brownish, severe ectropion	47
9	R37G c.1465_1492del Y489X	HETERO HETERO	2 E10/11	AGA→GGA	Arg37Gly STOP codon	Yes		Yes	Large, adherent, yellowish, mild ectropion	NEW NEW
10	R315H	HOMO	6	CGT→CAT	Arg315His	Yes		Yes	Large on the back; small, thin, yellowish on the limbs	49
11	V112A S550X	HETERO	2 11	GTG→GCG TCA→TGA	Val112Ala STOP codon	Yes	Yes		Large and adherent on the scalp; small, thin, yellowish, adherent on the trunk, minimal ectropion.	NEW NEW
12	Splicing error	HOMO	I5/E6	AG→GG	Insertion of intron 5	Yes	Yes		Large, adherent, yellow-brownish, ectropion, severe phenotype	26
13	Splicing error	HOMO	I5/E6	AG→GG	Insertion of intron 5	Not known	Yes		Large, whitish to grey, adherent, erythema of the face	26
14	Splicing error	HOMO		AG→GG	Insertion of intron 5	Yes	Yes		Large, adherent, brownish, mild ectropion	26
15	Splicing error	HOMO	I5/E6	AG→GG	Insertion of intron 5	Yes	Yes		Small to medium size, yellowish, more evident on the limbs, mild ecctropion. Note: mild erythema	26
16	Splicing error	HOMO	I5/E6	AG→GG	Insertion of intron 5	Yes	Yes		Large, adherent, dark	26
17	V379L R348X	HETERO	E7	CGA→TGA GTC→CTC	Val379L STOP codon	Yes	Yes		Large, thick, yellowish, adherent on limbs, thinner and smaller on trunk, mild/severe	26

Abbreviations: LI, lamellar ichthyosis; CIE, congenital ichthyosiform erythroderma.

Mutations reported in the present study (novel) are in bold.

^aAll patients analysed were European, Caucasian race, except patient 9 (African).