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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Ichthyosis, congenital, autosomal recessive 1

OMIM: 242300
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

TGM1 || c.1223_1227delACACA

Gene/Locus:	TGM1
Dna Change:	c.1223_1227delACACA
Protein Change:	p.Asp408Valfs*21
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 8
Transcript:	NM_000359.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Galicia	4 families/10 families	94 generations	Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.2278C>T

Gene/Locus:	TGM1
Dna Change:	c.2278C>T
Protein Change:	p.Arg760X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 15
Transcript:	NM_000359.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Galicia	7 families/10 families	96 generations ago	Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.984+1G>A

Gene/Locus:	TGM1
Dna Change:	c.984+1G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:
Location:	intron 6
Transcript:	NM_000359.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Galicia	2 families/10 families	NA	Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.788G>A

Gene/Locus:	TGM1
Dna Change:	c.788G>A
Protein Change:	p.Trp263X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 5
Transcript:	NM_000359.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	2 patients/2 unrelated families	NA	Louhichi N et al., 2013Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, . Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.. Mol. Biol. Rep.. 2013; 40(3):2527-32

References

Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, Multiple local and recent founder effects of TGM1 in Spanish families.PLoS ONE. 2012; 7(4):e33580

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Mol. Biol. Rep.. 2013; 40(3):2527-32

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Ichthyosis, congenital, autosomal recessive 1

References